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INTRODUCTION: Football is characterised by intermittent high-intensity efforts varying according to the field position of a player. We aimed to ascertain whether polymorphisms in the ACTN3 gene are associated with different playing positions in elite professional football players. SUBJECTS AND METHODS: Genotyping of the ACTN3 gene was conducted in 43 elite professional football players of a single team. Playing position was recorded based on the player's most frequent position. RESULTS: The genotype distribution was not significant between positions (p = 0.057), while the allele distribution differed significantly (p = 0.035). Goalkeepers (p = 0.04, p = 0.03), central defenders (p = 0.03, p = 0.01), and central midfielders (p = 0.01, p = 0.00) had a significantly different allele distribution compared with wide midfielders and forward players. CONCLUSIONS: Genetic biomarkers may be important when analysing performance capability in elite professional football. Identifying the genetic characteristics of a player to adapt his playing position may lead to orientation of positions based on physical capabilities and tissue quality in young football players, and also to performance enhancement in those who are already playing in professional teams.
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Actinina/genética , Atletas/estadística & datos numéricos , Fútbol/fisiología , Adulto , Alelos , Biomarcadores , Genotipo , Humanos , Masculino , Polimorfismo de Nucleótido Simple , Reacción en Cadena en Tiempo Real de la Polimerasa , Adulto JovenRESUMEN
PURPOSE: Muscle injuries are common in professional football, even though prevention protocols are being implemented. Genetics constitutes a novel field for studying intrinsic injury risks and performance. Since previous studies involving single nucleotide polymorphisms (SNPs) have shown that SNPs influence muscle injury rate, injury severity and recovery time, the aim was to study the association the SNP of ACTN3 has with those parameters in professional football players. METHODS: The medical staff team recorded non-contact musculoskeletal soft-tissue injuries in 43 professional football players in 7 different seasons (2007-2012 and 2015-2016). Injury rate, injury severity and injury recovery times were established. Players were genotyped by extracting DNA from a blood sample and using a polymerase chain reaction. RESULTS: Injury rate was associated with the SNP of ACTN3 (p = 0.003). The 577R allele was more frequent in subjects than in a normal population by showing presence in 93% of the subjects and suggesting that it could influence football performance. No statistically significant differences in injury severity and recovery time were associated with the SNP of ACTN3. CONCLUSIONS: Genetics is gaining in importance when assessing injury risk and performance in professional football. ACTN3 can be regarded as a biomarker of injury susceptibility in this discipline. Identifying those players with the highest injury susceptibility through genetics could lead football teams to individualise workloads and prevention protocols. LEVEL OF EVIDENCE: III.
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Actinina/genética , Polimorfismo de Nucleótido Simple , Fútbol/lesiones , Traumatismos de los Tejidos Blandos/genética , Adulto , Alelos , Marcadores Genéticos , Genotipo , Humanos , Incidencia , Masculino , España , Adulto JovenRESUMEN
PURPOSE: Damage to skeletal muscle necessitates regeneration to maintain proper muscle form and function. Interindividual differences in injury severity, recovery time, and injury rate could be explained by the presence of single nucleotide polymorphisms (SNPs) in genes involved in the reparation and regeneration of connective tissue . We wished to identify new genetic biomarkers that could help to prevent or minimize the risk of non-contact muscle injuries and are associated with a predisposition to developing muscle injuries. METHODS: Using allelic discrimination techniques, we analysed 12 SNPs in selected genes from the genomic DNA of 74 elite soccer players. RESULTS: SNPs in the hepatocyte growth factor (HGF) gene showed evidence of a statistically significant association with injury incidence, severity, and recovery time. SNPs in the SOX15 gene showed evidence of a statistically significant association with injury incidence. SNPs in the GEFT and LIF genes showed evidence of a statistically significant association with recovery time. CONCLUSIONS: Genetic profile could explain why some elite soccer players are predisposed to suffer more injuries than others and why they need more time to recover from a particular injury. SNPs in HGF genes have an important role as biomarkers of biological processes fragility within muscle injuries related to injury rate, severity, and long recovery time.
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Traumatismos en Atletas/genética , Músculo Esquelético/lesiones , Recuperación de la Función/genética , Fútbol/lesiones , Cicatrización de Heridas/genética , Adulto , Traumatismos en Atletas/epidemiología , Humanos , Incidencia , Masculino , Factores de Riesgo , Traumatismos de los Tejidos Blandos , España/epidemiología , Adulto JovenRESUMEN
Vertical clinging is a specialized form of locomotion characteristic of the primate family Callitrichidae. Vertical clinging requires these pronograde primates to maintain a vertical posture, so the protraction of their forelimbs must resist gravity. Since pronograde primates usually move as horizontal quadrupeds, we hypothesized that the supraspinatus muscle of vertical clingers would present specific characteristics related to the functional requirements imposed on the shoulder area by vertical clinging. To test this hypothesis, we quantified by real-time quantitative polymerase chain reaction the mRNA transcripts of myosin heavy chain (MHC) isoforms in the supraspinatus muscle of 15 species of pronograde primates, including vertical clingers. Our results indicate that the supraspinatus of vertical clingers has a specific expression pattern of the MHC isoforms, with a low expression of the transcripts of the slow MHC-I isoform and a high expression of the transcripts of the fast MHC-II isoforms. We conclude that these differences can be related to the particular functional characteristics of the shoulder in vertical clingers, but also to other anatomical adaptations of these primates, such as their small body size.
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Callitrichinae/fisiología , Cadenas Pesadas de Miosina/genética , ARN Mensajero/análisis , Manguito de los Rotadores/química , Animales , Callitrichinae/anatomía & histología , Callitrichinae/genética , Callitrichinae/metabolismo , ADN Complementario/biosíntesis , Femenino , Expresión Génica , Masculino , Tamaño de los Órganos , Isoformas de Proteínas , ARN Mensajero/aislamiento & purificación , Reacción en Cadena en Tiempo Real de la Polimerasa/veterinaria , Análisis de Regresión , Manguito de los Rotadores/anatomía & histologíaRESUMEN
BACKGROUND AND OBJECTIVES: Surgery is the standard treatment for colorectal cancer (CRC), and adjuvant chemotherapy has been shown to be effective in stage III but less so in stage II. We have analyzed the expression of the miR-200 family in tissue samples from resected CRC patients and correlated our findings with survival to adjuvant treatment with fluoropyrimidines. METHODS: Tumor tissue samples were obtained from 127 surgically resected patients with stage I-III CRC. miRNA detection was performed using TaqMan MicroRNA assays. RESULTS: High levels of miR-200a and miR-200c were associated with longer overall survival, while high levels of miR-429 correlated with longer overall and disease-free survival (DFS). In the subgroup of 56 patients treated with fluoropyrimidines and in the smaller subgroup of 32 stage II patients treated with fluoropyrimidines, those with high levels of miR-200a, miR-200c, miR-141, or miR-429 had significantly longer overall and DFS. Low miR-429 levels were identified as an independent prognostic marker. High levels of miR-429 combined with 5-fluorouracil inhibited cell invasion in LOVO cells. CONCLUSIONS: miR-200a, miR-200c, miR-141, and miR-429 expression levels may identify CRC patients, including those with stage II disease, who are most likely to benefit from adjuvant chemotherapy.
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Neoplasias Colorrectales/tratamiento farmacológico , Fluorouracilo/uso terapéutico , MicroARNs/fisiología , Anciano , Línea Celular Tumoral , Neoplasias Colorrectales/mortalidad , Neoplasias Colorrectales/patología , Supervivencia sin Enfermedad , Transición Epitelial-Mesenquimal , Femenino , Humanos , Masculino , Invasividad Neoplásica , Estadificación de Neoplasias , Modelos de Riesgos ProporcionalesRESUMEN
BACKGROUND: The biological mechanisms involved in non-contact musculoskeletal soft tissue injuries (NCMSTI) are poorly understood. Genetic risk factors may be associated with susceptibility to injuries, and may exert marked influence on recovery times. METHODS: Data on type and degree of injury and recovery time were collected in 73 male professional soccer players (43 White, 11 Black Africans and 19 Hispanics) who suffered total of 242 injuries (203 muscle, 24 ligament, and 15 tendon injuries). One single nucleotide polymorphism (SNPs) in the following genes were analyzed: Elastin (ELN); Titin (TTN); SRY-related HMG-box (SOX15); Insulin-like growth factor 2 (IGF2); Chemokine, CC motif, ligand 2 (CCL2); Collagen type 1 alpha 1(COL1A1); Collagen type 5 alpha 1 (COL5A1), and Tenascin C (TNC). RESULTS: There was evidence of a statistically significant association between the degree of injury and the IGF2 genotype (P = 0.034). In addition, there was evidence of a statistically significant association between the degree of muscle injury and CCL2 (P = 0.026) Finally, there was evidence of a statistically significant association between ELN and degree of injury (p = 0.009) and recovery time (P = 0.043). There was no evidence of a statistically significant association between any of the genes studied and degree of injury or recovery time for tendon injuries. CONCLUSION: SNPs in the IGF2, CCL2, and ELN genes may be associated to the degree and recovery time of NCMSTI.
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Traumatismos en Atletas/genética , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Fútbol , Traumatismos de los Tejidos Blandos/genética , Adulto , Traumatismos en Atletas/patología , Traumatismos en Atletas/fisiopatología , Quimiocina CCL2/genética , Elastina/genética , Genotipo , Humanos , Factor II del Crecimiento Similar a la Insulina/genética , Masculino , Recuperación de la Función , Traumatismos de los Tejidos Blandos/patología , Traumatismos de los Tejidos Blandos/fisiopatología , Factores de Tiempo , Índices de Gravedad del Trauma , Adulto JovenRESUMEN
The inflammasomes are macromolecular cytosolic complexes involved in the production of interleukin-1beta (IL-1beta) and IL-18 in response to several pathogen-derived stimuli. Such interleukins have been implicated in the origin of severe allogeneic stem cell transplant (allo-SCT) complications. We analyzed the relationship between the interindividual variability in inflammasome protein-encoding genes in donors and patients and clinical outcome after allo-SCT. Fourteen common genetic variants in 5 genes of the inflammasome, namely, NLRP1, NLRP2, NLRP3, CARD8, and CASP5, were genotyped in 133 human leukocyte antigen-identical sibling pairs undergoing allo-SCT. In the multivariate analysis, donor variants in NLRP2 and NLRP3 were the most important prognostic factors for the clinical outcome after allo-SCT. Thus, donor TT genotype at rs10925027 in NLRP3 was associated with disease relapse (odds ratio (OR) = 6.3, P = 1 x 10(-7)), and donor GG genotype at rs1043684 in NLRP2 was associated with nonrelapse mortality (OR = 4.4, P = 6 x 10(-4)) and overall survival (OR = 3.1, P = .001). In addition, patient AA genotype at rs5862 in NLRP1 was associated with nonrelapse mortality (OR = 2.8, P = .005) and overall survival (OR = 2.0, P = .009). These results suggest that inflammasome genetic variants are important prognostic factors for the outcome of allo-SCT. If validated in larger studies, including unrelated allo-SCT, NLRPs genotype would become an important factor in donor selection.
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Proteínas Adaptadoras Transductoras de Señales/genética , Proteínas Portadoras/genética , Variación Genética , Antígenos HLA , Hermanos , Trasplante de Células Madre , Proteínas Adaptadoras Transductoras de Señales/metabolismo , Adolescente , Adulto , Proteínas Reguladoras de la Apoptosis/genética , Proteínas Reguladoras de la Apoptosis/metabolismo , Proteínas Adaptadoras de Señalización CARD/genética , Proteínas Adaptadoras de Señalización CARD/metabolismo , Proteínas Portadoras/metabolismo , Caspasas/genética , Caspasas/metabolismo , Supervivencia sin Enfermedad , Femenino , Genotipo , Neoplasias Hematológicas/genética , Neoplasias Hematológicas/metabolismo , Neoplasias Hematológicas/mortalidad , Humanos , Interleucina-18 , Interleucina-1beta/metabolismo , Masculino , Persona de Mediana Edad , Proteína con Dominio Pirina 3 de la Familia NLR , Proteínas NLR , Proteínas de Neoplasias/genética , Proteínas de Neoplasias/metabolismo , Valor Predictivo de las Pruebas , Recurrencia , Estudios Retrospectivos , Tasa de Supervivencia , Trasplante HomólogoRESUMEN
PURPOSE: To evaluate the efficacy of treatment with the aromatase inhibitor letrozole in breast cancer patients segregated with respect to DNA polymorphisms of the aromatase gene CYP19. PATIENTS AND METHODS: Postmenopausal patients (n = 67) with hormone receptor-positive metastatic breast cancer were treated with the aromatase inhibitor letrozole. PCR allelic discrimination was used to examine three single-nucleotide polymorphisms (SNP) in DNA obtained from breast carcinoma tissue. Two SNPs analyzed (rs10046 and rs4646) were located in the 3' untranslated region and one (rs727479) was in the intron of the aromatase CYP19 gene. The primary end point of treatment efficacy was time to progression (TTP). RESULTS: Median age was 62 years and median number of metastatic sites was 2. Observed allelic SNP frequencies were rs10046, 71%; rs4646, 46%; and rs727479, 63%. Of the 67 patients, 65 were evaluable for efficacy. Median TTP was 12.1 months. We observed no relationship between TTP and the rs10046 or rs727479 variants. In contrast, we found that TTP was significantly improved in patients with the rs4646 variant, compared with the wild-type gene (17.2 versus 6.4 months; P = 0.02). CONCLUSION: In patients with hormone receptor-positive metastatic breast cancer treated with the aromatase inhibitor letrozole, the presence of a SNP in the 3' untranslated region of the CYP19 aromatase gene is associated with improved treatment efficacy. Testing for the CYP19 rs4646 SNP as a predictive tool for breast cancer patients on antiaromatase therapy deserves prospective evaluation.
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Inhibidores de la Aromatasa/uso terapéutico , Aromatasa/genética , Neoplasias de la Mama/tratamiento farmacológico , Neoplasias de la Mama/enzimología , Nitrilos/uso terapéutico , Polimorfismo de Nucleótido Simple , Triazoles/uso terapéutico , Regiones no Traducidas 3'/genética , ADN de Neoplasias/genética , ADN de Neoplasias/aislamiento & purificación , Femenino , Humanos , Letrozol , Selección de Paciente , Reacción en Cadena de la Polimerasa , Posmenopausia , Estudios ProspectivosRESUMEN
When an anticancer drug is captured and transported to the interior of a cell, many biochemical processes intervene in the metabolism of the drug. First, the Phase I and Phase II enzymes produce metabolites, which are then excreted via the ABC-transporter enzymes. Finally, the remaining drug binds to its molecular target. Genetic alterations known as polymorphisms in any of the proteins that intervene in these processes can affect the efficacy of treatment. Interestingly, these polymorphisms can be detected in both normal and tumour cells. In this article, we will review the most effective method of detecting single-nucleotide polymorphisms (SNPs) and describe the principal SNPs in enzymes involved in drug metabolism and in DNA repair. Finally, we will briefly describe promising lines of future research in this field.
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Neoplasias/tratamiento farmacológico , Farmacogenética/métodos , Antineoplásicos/aislamiento & purificación , Antineoplásicos/uso terapéutico , Diseño de Fármacos , Humanos , MicroARNs/genética , MicroARNs/fisiología , Modelos Biológicos , Neoplasias/genética , Polimorfismo de Nucleótido Simple , Resultado del TratamientoRESUMEN
BACKGROUND/AIMS: Oxaliplatin damages the DNA, leading to apoptosis. XPA, XPD, ERCC1 and XPG genes are involved in DNA repair, and single nucleotide polymorphisms (SNPs) in these genes can influence the efficacy of oxaliplatin. We examined SNPs in these genes and correlated the results with time to progression (TTP), overall survival and response to oxaliplatin in 42 advanced colorectal cancer patients (CRC) treated with first-line oxaliplatin/fluoropyrimidine. METHODS: DNA was obtained from peripheral blood cells, and the allelic discrimination assay was used to analyze the XPA 5'UTR T/C, XPD Lys751Gln, ERCC1 Lys259Thr and XPG, C/T. RESULTS: Patients with XPG C/C genotype had a longer survival (p = 0.001) and TTP (p = 0.009) than patients with XPG C/T or T/T genotypes, and patients with both XPG C/C and XPA T/C or C/C genotypes had a longer survival (p = 0.0001) and TTP (p = 0.0001) than patients with other genotypes. XPG (CC) combined with XPA (TC/CC) genotypes showed an independent role for TTP (relative risk, RR = 6.38; p = 0.0001) and survival (RR = 34; p = 0.0005). CONCLUSION: Polymorphism in XPG combined with XPA may be an important prognosticator of clinical outcome following oxaliplatin/ fluoropyrimidine chemotherapy. Further studies in larger patient cohorts are warranted to confirm their role in CRC.
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Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Neoplasias Colorrectales/genética , Proteínas de Unión al ADN/genética , Endonucleasas/genética , Proteínas Nucleares/genética , Factores de Transcripción/genética , Proteína de la Xerodermia Pigmentosa del Grupo A/genética , Proteína de la Xerodermia Pigmentosa del Grupo D/genética , Adulto , Anciano , Capecitabina , Neoplasias Colorrectales/tratamiento farmacológico , Reparación del ADN/genética , Desoxicitidina/administración & dosificación , Desoxicitidina/análogos & derivados , Progresión de la Enfermedad , Femenino , Fluorouracilo/administración & dosificación , Fluorouracilo/análogos & derivados , Humanos , Masculino , Persona de Mediana Edad , Compuestos Organoplatinos/administración & dosificación , Oxaliplatino , Polimorfismo de Nucleótido Simple , Análisis de SupervivenciaRESUMEN
CONCLUSIONS: Cyclooxygenase-2 mRNA (COX2) levels are higher in head and neck cancer (HNC) patients than in controls and this correlates with tumor size and outcome. These findings suggest the use of this parameter as a future tumor marker. OBJECTIVE: We analyzed the expression of COX2 mRNA in peripheral blood cells in HNC patients and in healthy controls and its relationship with outcome and progression-free survival. MATERIALS AND METHODS: Blood samples were obtained from 41 consecutive HNC patients and 16 healthy controls and analyzed for COX2 mRNA with quantitative real-time polymerase chain reaction and compared with beta-actin as a house-keeping gene. RESULTS: Treatment consisted of surgery only (4 patients), chemoradiotherapy (18), chemotherapy followed by curative surgery (4) or palliative chemotherapy (15). COX2 mRNA levels were higher in patients with unfavorable outcome (mean 6.8, median 2.06) than those with favorable outcome (mean 1.2, median 1.31) (p=0.062). Both were higher than for healthy controls (mean 0.74, median 0.72; p<0.001). In bulky tumors, the percentage of level over 6 in unfavorable outcome cases was higher than in the favorable outcome cases (p=0.005). In chemotherapy patients with level
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Ciclooxigenasa 2/sangre , Ciclooxigenasa 2/genética , Neoplasias de Cabeza y Cuello/genética , Neoplasias de Cabeza y Cuello/metabolismo , Proteínas de la Membrana/sangre , Proteínas de la Membrana/genética , ARN Mensajero/genética , ARN Mensajero/metabolismo , Actinas/metabolismo , Adulto , Anciano , Terapia Combinada , Cartilla de ADN/genética , ADN Complementario/genética , Progresión de la Enfermedad , Supervivencia sin Enfermedad , Femenino , Neoplasias de Cabeza y Cuello/terapia , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa de Transcriptasa InversaRESUMEN
SUMMARY: The main objective of this study was to analyze by real-time quantitative polymerase chain reaction (RT-qPCR) the expression patterns of the myosin heavy chain (MHC) isoforms (MHC-I, MHC-IIa, MHC-IIx) in the sphenomandibularis portion of the temporalis muscle. We expected to find differences between the sphenomandibularis and the other portions of the temporalis that could be related to the functional characteristics of the sphenomandibularis identified by electromyography. We dissected the right temporalis muscle of ten adult human individuals (five men and five women). Samples of the anterior and posterior temporalis and of the sphenomandibularis portion were obtained from each dissected muscle. These samples were analyzed by RT-qPCR to determine the percentages of expression of the MHC-I, MHC-IIa and MHC-IIx isoforms. No significant differences were identified between the anterior and the posterior temporalis in the expression patterns of the MHC-I, MHC-IIa and MHC-IIx isoforms. However, there were significant differences between the sphenomandibularis and the anterior temporalis. Specifically, the sphenomandibularis portion had a higher percentage of expression of the MHC-I isoform (P=0.04) and a lower percentage of expression of the MHC-IIx isoform (P=0.003). The pattern of expression that we observed in the sphenomandibularis reflects a greater resistance to fatigue, a lower contraction speed, and a lower capacity of force generation in the sphenomandibularis compared to the anterior temporalis. These characteristics are consistent with electromyographic findings on the functional differences between these two portions.
RESUMEN: El principal objetivo de este estudio fue analizar mediante real-time quantitative polymerase chain reaction (RT-qPCR) los patrones de expresión de las isoformas de la cadena pesada de la miosina (MHC-I, MHC-IIa y MHC-IIx) en la porción esfenomandibular del músculo temporal. Se esperó encontrar diferencias entre el esfenomandibular y las otras porciones del músculo temporal que se pudieran relacionar con las características funcionales del esfenomandibular, identificadas mediante electromiografía. Para obtener estos resultados, se diseccionó el músculo temporal derecho en diez humanos adultos (cinco hombres y cinco mujeres) y se obtuvieron muestras de la porción anterior y posterior del músculo temporal y de su porción esfenomandibular. Estas muestras fueron analizadas mediante RT-qPCR para determinar los porcentajes de expresión de las isoformas MHC-I, MHC- IIa y MHC-IIx. No se identificaron diferencias significativas de los patrones de expresión entre la porción anterior y la porción posterior del músculo temporal, pero sí que se observaron diferencias significativas entre la porción anterior del músculo temporal y su porción esfenomandibular. Concretamente, la porción esfenomandibular presentó un mayor porcentaje de expresión de la isoforma MHC-I (P=0.04) y un menor porcentaje de expresión de la isoforma MHC-IIx (P=0.003). El patrón de expresión que hemos observado en la porción esfenomandibular del músculo temporal refleja una mayor resistencia a la fatiga, una velocidad de contracción más lenta y una menor capacidad de generar fuerza si se compara esta porción con la porción anterior del músclo temporal. Estas características son consistentes con las diferencias funcionales que presentan estas dos porciones, que han sido descritas mediante electromiografía.
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Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Músculo Temporal/metabolismo , Cadenas Pesadas de Miosina/metabolismo , Hueso Esfenoides , ARN Mensajero/metabolismo , Inmunohistoquímica , Isoformas de Proteínas , Electromiografía , Reacción en Cadena en Tiempo Real de la PolimerasaRESUMEN
OBJECTIVE: The aim of this study is to examine the expression pattern of the different myosin heavy chain (MyHC) isoforms in the masseter and medial pterygoid muscles by real time quantitative polymerase chain reaction (RT-qPCR) to obtain information at molecular level which can be related to the functional characteristics of these two muscles. DESIGN: The masseter, deep and superficial portion, and medial pterygoid muscles of five adult Pan troglodytes were dissected in order to obtain samples of the anterior and posterior regions of each portion of the masseter and of the medial pterygoid. The expression of MyHC isoforms mRNA transcripts was analyzed by RT-qPCR. RESULTS: No significant differences in expression of MyHC isoforms between the masseter and the medial pterygoid were found. In contrast, when comparing the superficial and the deep portion of the masseter, we found that the MyHC-IIM isoform was expressed at a significantly higher level in the superficial portion. CONCLUSIONS: The superficial portion of the masseter and the medial pterygoid muscle have the same expression pattern regarding the different MyHC isoforms. On the other hand, the deep portion of the masseter, which is activated mainly during lateral and repositioning movements of the mandible, has a lower MyHC-IIM isoform expression than the superficial portion. Our findings provide new data on functional aspects of the masseter and medial pterygoid that can complement results obtained by other techniques.
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Músculo Masetero/metabolismo , Cadenas Pesadas de Miosina/metabolismo , Músculos Pterigoideos/metabolismo , Isoformas de ARN/metabolismo , Animales , Pan troglodytes , Reacción en Cadena en Tiempo Real de la PolimerasaRESUMEN
PURPOSE: The common chimpanzee (Pan troglodytes) is the primate that is phylogenetically most closely related to humans (Homo sapiens). In order to shed light on the anatomy and function of the temporalis muscle in the chimpanzee, we have analyzed the expression patterns of the mRNA transcripts of the myosin heavy chain (MyHC) isoforms in different parts of the muscle. BASIC PROCEDURES: We dissected the superficial, deep and sphenomandibularis portions of the temporalis muscle in five adult P. troglodytes and quantified the expression of the mRNA transcripts of the MyHC isoforms in each portion using real-time quantitative polymerase chain reaction. MAIN FINDINGS: We observed significant differences in the patterns of expression of the mRNA transcripts of the MyHC-IIM isoform between the sphenomandibularis portion and the anterior superficial temporalis (33.6% vs 47.0%; P=0.032) and between the sphenomandibularis portion and the anterior deep temporalis (33.6% vs 43.0; P=0.016). We also observed non-significant differences between the patterns of expression in the anterior and posterior superficial temporalis. PRINCIPAL CONCLUSIONS: The differential expression patterns of the mRNA transcripts of the MyHC isoforms in the temporalis muscle in P. troglodytes may be related to the functional differences that have been observed in electromyographic studies in other species of primates. Our findings can be applicable to the fields of comparative anatomy, evolutionary anatomy, and anthropology.
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Cadenas Pesadas de Miosina/metabolismo , ARN Mensajero/metabolismo , Músculo Temporal/metabolismo , Animales , Femenino , Humanos , Masculino , Cadenas Pesadas de Miosina/genética , Pan troglodytes , Especificidad de la Especie , Distribución TisularRESUMEN
Shh is expressed in the early stages of embryogenesis and in the foregut development. Although Shh has been shown to be overexpressed in brain, pancreas, gastric and lung cancers, its role in the development of colorectal cancer has not been examined. We used real-time quantitative PCR to assess Shh mRNA expression levels in tumor and matched normal tissue from 57 colorectal cancer patients and correlated the results with patient clinicopathological characteristics. Shh expression levels were higher in tumor tissue than in normal tissue from the same patient (P=0.00001). Higher levels of Shh expression were associated with early stage disease (P=0.02). Shh overexpression may influence the development of colorectal cancer.
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Neoplasias Colorrectales/metabolismo , Reacción en Cadena de la Polimerasa/métodos , ARN Mensajero/análisis , Transactivadores/genética , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias Colorrectales/patología , Femenino , Proteínas Hedgehog , Humanos , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND: The study of new genetic biomarkers in genes related to connective tissue repair and regeneration may help to identify individuals with greater predisposition to injury, who may benefit from targeted preventive measures, and those who require longer recovery time following a muscle, ligament or tendon injury. The present study investigated whether single nucleotide polymorphisms of the Elastin gene could be related to MCL injury. METHODS: 60 top class football players were studied to identify single nucleotide polymorphisms for the Elastin (ELN) gene using Allelic Discrimination analysis. Each player was followed for 7 seasons, and each MCL injury was noted. RESULTS: Ligament injury rate, severity and recovery time are related to specific genotypes observed in the elastin gene, especially the ELN-AA (16 MCL) and the ELN-AG (3 MCL). Players with the ELN-GG genotype sustained no MCL injury during the 7 seasons of the study. CONCLUSIONS: The identification of polymorphisms in the ELN gene may be used as a novel tool to better define an athlete's genotype, and help to plan training and rehabilitation programmes to prevent or minimize MCL ligament injuries, and optimize the therapeutic and rehabilitation process after soft tissue injuries, and manage the workloads during trainings and matches.
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SUMMARY: Both the masseter and medial pterygoid muscles elevate the mandible, raising the lower jaw by acting simultaneously on the lateral and medial surfaces of the mandibular ramus. Nevertheless, electromyographic studies indicate that these muscles, as well as the superficial and deep heads of the masseter, act in a different way during mastication. We have analyzed by real time quantitative polymerase chain reaction (RT-qPCR) the expression of myosin heavy chain (MHC) isoforms in the masseter and medial pterygoid muscles in humans in order to identify possible differences in the expression patterns that may be related to functional differences identified with electromyography. Our findings indicate that the expression pattern of MHC isoforms in the two muscles is characteristic of fast and powerful phasic muscles. We have also observed a high percentage of expression of the MHC-IIx isoform and the expression of the MHC-M isoform at the mRNA level in both muscles, an isoform that does not translate into protein in the masticatory muscles of humans. The high percentage of expression of the MHC-IIx isoform in humans can be related to a high contractile speed of the masseter and medial pterygoid in humans. On the other hand, the low percentage of expression of the MHC-M isoform at the mRNA level in both muscles can be related to the complex evolutionary process that has reduced the size and force of the masticatory muscles in humans.
RESUMEN: Los músculos masetero y pterigoideo medial elevan la mandíbula actuando de forma simultánea sobre las caras lateral y medial de su rama. Sin embargo, los estudios electromiográficos indican que estos dos músculos actúan de forma diferente durante la masticación, de la misma forma que lo hacen las porciones superficial y profunda del músculo masetero. En el presente estudio hemos analizado mediante PCR en tiempo real la expresión de las isoformas de la cadena pesada de la miosina o myosin heavy chain (MHC) en los músculos masetero y pterigoideo medial en humanos, con la finalidad de identificar diferencias en los patrones de expresión que se puedan relacionar con las diferencias funcionales identificadas con la electromiografía. Nuestros resultados indican que el patrón de expresión de las isoformas de la MHC en los dos músculos es la característica de los músculos rápidos y potentes. También hemos observado un elevado porcentaje de expresión de la isoforma MHC-IIx y la expresión a nivel de ARNm de la isoforma MHC-M en los dos músculos, una isoforma que no se detecta a nivel de proteína en los músculos masticadores humanos. El elevado porcentaje de expresión de la isoforma MHC-IIx que hemos observado se puede relacionar con una elevada velocidad de contracción de los músculos masetero y pterigoideo medial en los humanos. Por otro lado, el bajo porcentaje de expresión de la isoforma MHC-M a nivel de ARNm en ambos músculos se puede relacionar con los procesos evolutivos complejos que han reducido el tamaño y la fuerza de los músculos masticadores en los humanos.
Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Músculos Pterigoideos/metabolismo , Cadenas Pesadas de Miosina/metabolismo , Músculo Masetero/metabolismo , Cadáver , Cadenas Pesadas de Miosina/genética , Isoformas de ARN/metabolismo , Reacción en Cadena en Tiempo Real de la PolimerasaRESUMEN
BACKGROUND AND OBJECTIVE: The prevention, diagnosis, and management of non-contact musculoskeletal soft tissue injuries (NCMSTIs) related to participation in sports are key components of sport and exercise medicine. Epidemiological data have demonstrated the existence of interindividual differences in the severity of NCMSTIs, indicating that these injuries occur as a consequence of both extrinsic and intrinsic factors, including genetic variations. SUBJECTS AND METHODS: We have collected data on NCMSTIs suffered by 73 elite players of White, black African and Hispanic ethnicity of European football over the course of three consecutive seasons. We have also examined eight single nucleotide polymorphisms (SNPs) in genes related to tissue recovery and tissue repair in blood drawn from the players and correlated our findings with type and severity of injuries in each ethnic group. RESULTS: The frequency of the SNPs varied among the three ethnic sub-groups (p<0.0001). Among Whites, a significant relationship was observed between ligament injuries and ELN (p=0.001) and between tendinous injuries and ELN (p=0.05) and IGF2 (p=0.05). Among Hispanics, there was a significant relation between muscle injuries and ELN (p=0.032) and IGF2 (p=0.016). CONCLUSIONS: Interracial genotypic differences may be important in the study of NCMSTIs. A genetic profile based on SNPs may be useful tool to describe each individual's injuribility risk and provide specific treatment and preventive care for football players.
Asunto(s)
Etnicidad/genética , Polimorfismo de Nucleótido Simple , Fútbol/lesiones , Traumatismos de los Tejidos Blandos/genética , Adulto , Alelos , Población Negra/genética , Quimiocina CCL2/genética , Análisis Mutacional de ADN , Elastina/genética , Europa (Continente) , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Factor II del Crecimiento Similar a la Insulina/genética , Ligamentos/lesiones , Masculino , Traumatismos de los Tejidos Blandos/etnología , España/epidemiología , Índices de Gravedad del Trauma , Población Blanca/genéticaRESUMEN
Platelet-rich plasma (PRP) is a new powerful biological tool in sports medicine, when used to treat tendon, ligament and muscle injuries. PRP is a fraction of autologous whole blood containing an increased number of platelets and a wide variety of cytokines that can improve and accelerate the healing of various tissues. An analysis of the literature shows promising pre-clinical results for PRP treatment, but there is a lack of solid clinical proof to support its use in sports medicine, and in fact, clinical findings on individual responses to PRP treatment are contradictory. These contradictions may be due to interindividual differences in the presence of single nucleotide polymorphisms (SNPs) in genes related to PRPs and/or their receptors. These SNPs can determine a greater or lesser response to this treatment and consequently a shorter or longer recovery time. We have focused our attention in the study of genes related to PRP with the aim to develope a genetic profile that will identify the individuals and injuries most likely to benefit from PRP treatment.
RESUMEN
The purpose of this study was to evaluate the use of a compression garment as DOMS prevention. This was accomplished by provoking a DOMS in 15 athletes, running on a treadmill at 73% of their maximal aerobic velocity, during 40 minutes with a 10% negative slope; wearing the compression garments on one thigh, protected thigh (PT), and not in the contralateral thigh, control thigh (CT). A clinical and MRI diagnosis of DOMS was performed. Biopsies in both vastus lateralis were done, and the amount and severity of the DOMS was estimated by measuring intracellular albumin, and lymphocytes CD3+ and neutrophils intra/interfibrilar infiltrates, 48h after the induced damaging exercise. There was less total injury in the PT than in the CT, a 26.7% average. These data indicate that this compression garment is an effective method to reduce the histological injury in DOMS.