Exercise influence on monocarboxylate transporter 1 (MCT1) and 4 (MCT4) in the skeletal muscle: A systematic review.

This review aims to systematically analyze the effect of exercise on muscle MCT protein levels and mRNA expression of their respective genes, considering exercise intensity, and duration (single-exercise session and training program) in humans and rodents, to observe whether both models offer aligned results. The review also aims to report methodological aspects that need to be improved in future studies. A systematic search was conducted in the PubMed and Web of Science databases, and the Preferred Reporting Items for Systematic review and Meta-Analyses (PRISMA) checklist was followed. After applying inclusion and exclusion criteria, 41 studies were included and evaluated using the Cochrane collaboration tool for risk of bias assessment. The main findings indicate that exercise is a powerful stimulus to increase MCT1 protein content in human muscle. MCT4 protein level increases can also be observed after a training program, although its responsiveness is lower compared to MCT1. Both transporters seem to change independently of exercise intensity, but the responses that occur with each intensity and each duration need to be better defined. The effect of exercise on muscle mRNA results is less defined, and more research is needed especially in humans. Moreover, results in rodents only agree with human results on the effect of a training program on MCT1 protein levels, indicating increases in both. Finally, we addressed important and feasible methodological aspects to improve the design of future studies.

[Chronic diseases and multimorbidiy in patients with toxic oil syndrome: a comparative study with general population.] / Enfermedades crónicas y multimorbilidad en pacientes con síndrome de aceite tóxico: estudio comparativo con población general.

OBJECTIVE: Toxic oil syndrome is a multisystemic disease that arose in 1981 due to the ingestion of contaminated rapeseed oil. Previous studies have found a higher prevalence of cardiovascular risk factors in these patients. The aim of this study was to analyze the differences in the prevalence of chronic diseases among a population affected by Toxic oil syndrome compared with a reference population in the Community of Madrid. METHODS: Cross-sectional observational study of patients with a registry diagnosed with Toxic oil syndrome in the primary care medical record and a reference sample without Toxic oil syndrome matched by age group and sex. Sociodemographic variables, cardiovascular risk factors, cardiovascular and cerebrovascular disease, anxiety, depression, asthma, chronic obstructive pulmonary disease, and low back pain, and multimorbidity (≥2 chronic diseases) were assesed. Descriptive and multivariate analysis was performed to study the association between morbidity and Toxic oil syndrome. RESULTS: 3,527 patients (1,394 Toxic oil syndrome) were included with a mean age of 66 (SD14) years, 71% women. Patients with a diagnosis of SAT were more likely to present multimorbidity (OR 1.36; 95%CI: 1.10-1.45), diabetes (OR 1.55; 95%CI: 1.29-1.86), complicated hypertension (OR 1.77; IC95%: 1.31-2.39), heart attack (OR 2.23; 95%CI: 1.47-3.38), depression (OR 1.39; 95%CI: 1.17-1.66) and asthma (OR 1.56; 95%CI: 1.23-1.97). The prevalence of anxiety was lower in TOS (OR 0.35; 95% CI: 0.18-0.69) as well as low back pain (OR 0.77; 95%CI: 0.65-0.91). CONCLUSIONS: Patients with toxic oil syndrome have a higher frequency of chronic diseases and mutimorbidity compared to the general population of the same sex and age.

OBJETIVO: El síndrome del aceite tóxico es una enfermedad multisistémica que surgió en 1981 debido a la ingesta de aceite de colza contaminado. Estudios previos han encontrado en estos pacientes una mayor prevalencia de factores de riesgo cardiovascular. El objetivo de este estudio fue analizar las posibles diferencias en prevalencia de morbilidad crónica entre una población afectada por síndrome de aceite tóxico comparada con una población de referencia en la Comunidad de Madrid. METODOS: Estudio observacional transversal de pacientes diagnosticados de síndrome del aceite tóxico en la historia clínica de atención primaria y una muestra de referencia sin síndrome del aceite tóxico apareados por grupo de edad y sexo. Se recogieron variables sociodemográficas, factores de riesgo cardiovascular, enfermedad cardiovascular y cerebrovascular, ansiedad, depresión, asma, enfermedad pulmonar obstructiva crónica, lumbalgia y multimorbilidad (≥2 enfermedades crónicas). Se realizó análisis descriptivo y multivariante para estudiar la asociación entre morbilidad y síndrome del aceite tóxico. RESULTADOS: Se incluyeron 3.527 pacientes (1.394 SAT) con una edad media de 66 (14) años, el 71% mujeres. Los pacientes con diagnóstico de síndrome del aceite tóxico tuvieron mayor probabilidad de presentar multimorbilidad (OR 1,36; IC95%: 1,10-1,45), diabetes (OR 1,55; IC95%: 1,29-1,86), hipertensión arterial complicada (OR 1,77; IC95%: 1,31-2,39), infarto (OR 2,23; IC95%: 1,47-3,38), depresión (OR 1,39; IC95%: 1,17-1,66) y asma (OR 1,56; IC95%: 1,23-1,97). La prevalencia de ansiedad fue menor (OR 0,35; IC95%: 0,18-0,69) así como de lumbalgia (OR 0,77; IC95%: 0,65-0,91). CONCLUSIONES: Los pacientes con síndrome de aceite tóxico presentan una mayor frecuencia de enfermedades crónicas y mutimorbilidad comparado con población general del mismo sexo y edad.

Impact of APOE2allele on lipid profile change after a weight loss program.

BACKGROUND: apolipoprotein E (ApoE) polymorphism is a genetic determinant of lipid and lipoprotein levels and the risk for coronary heart disease. OBJECTIVE: to evaluate the impact of ApoE2allele in lipid plasma levels and the influence of a healthy hypocaloric diet plus a controlled physical activity on the lipid profile, we performed a study in a cohort of overweight and obese healthy subjects (Body Mass Index (BMI) between 25 and 34.9 kg·m-2). METHODS: one hundred eighty participants (96 women), aged 18-50 years participated in a 22 weeks weight loss intervention based on same dietary treatment and different controlled exercise programs. All subjects followed a hypocaloric diet (25-30% less energy intake than the daily energy expenditure). Blood samples were obtained for lipids measurements at the beginning and end of the study. RESULTS: after intervention, men of the E2 group showed the greatest decreases in low-density lipoprotein (LDL), triglycerides (TG) and total cholesterol (TC) values (p = 0.039; p = 0.001; p = 0.001; respectively). For high-density lipoprotein (HDL), E2 group had significant differences compared with E4 at pre- (p = 0.020) and post-intervention values (p = 0.024). CONCLUSION: our results show great changes in men carrying ApoE2, mainly in TG and TC concentrations after treatment with hypocaloric diet and controlled exercise. Therefore, adding supervised training to nutritional intervention seems to be a good alternative for the reinforcement of the effect of the treatment.

Impact of APOE2 allele on lipid profile change after a weight loss program / Impacto del alelo APOE2 en el cambio del perfil lipídico después de un programa de pérdida de peso

Background: apolipoprotein E (ApoE) polymorphism is a genetic determinant of lipid and lipoprotein levels and the risk for coronary heart disease. Objective: to evaluate the impact of ApoE2 allele in lipid plasma levels and the influence of a healthy hypocaloric diet plus a controlled physical activity on the lipid profile, we performed a study in a cohort of overweight and obese healthy subjects (Body Mass Index (BMI) between 25 and 34.9 kg·m-2). Methods: one hundred eighty participants (96 women), aged 18-50 years participated in a 22 weeks weight loss intervention based on same dietary treatment and different controlled exercise programs. All subjects followed a hypocaloric diet (25-30% less energy intake than the daily energy expenditure). Blood samples were obtained for lipids measurements at the beginning and end of the study. Results: after intervention, men of the E2 group showed the greatest decreases in low-density lipoprotein (LDL), triglycerides (TG) and total cholesterol (TC) values (p = 0.039; p = 0.001; p = 0.001; respectively). For high-density lipoprotein (HDL), E2 group had significant differences compared with E4 at pre- (p = 0.020) and post-intervention values (p = 0.024). Conclusion: our results show great changes in men carrying ApoE2, mainly in TG and TC concentrations after treatment with hypocaloric diet and controlled exercise. Therefore, adding supervised training to nutritional intervention seems to be a good alternative for the reinforcement of the effect of the treatment

Antecedentes: el polimorfismo de la apolipoproteína E (ApoE) es un determinante genético de los niveles de lípidos y lipoproteínas y el riesgo de enfermedad coronaria. Objetivo: para evaluar el impacto del alelo ApoE2 en los niveles de lípidos plasmáticos y la influencia de una dieta hipocalórica sana más una actividad física controlada en el perfil lipídico, se realizó un estudio en una cohorte de sujetos sanos con sobrepeso y obesidad (índice de masa corporal entre 25-34,9 kg·m-2). Métodos: ciento ochenta participantes (96 mujeres), de 18-50 años participaron en una intervención de pérdida de peso de 22 semanas basada en el mismo tratamiento dietético y diferentes programas de ejercicios controlados. Todos los sujetos siguieron una dieta hipocalórica (consumo de energía entre 25-30% inferior que el gasto energético total diario). Se obtuvieron muestras de sangre para las mediciones de lípidos al inicio y al final del estudio. Resultados: después de la intervención, los hombres del grupo E2 mostraron las mayores disminuciones en los valores de lipoproteína de baja densidad (LDL), triglicéridos (TG) y colesterol total (TC) (p = 0,039; p = 0,001; p = 0,001). Para las lipoproteínas de alta densidad (HDL), el grupo E2 presentó diferencias significativas en comparación con E4 en los valores previos (p = 0,020) y postintervención (p = 0,024). Conclusión: nuestros resultados muestran grandes cambios en los hombres que portan ApoE2, principalmente en las concentraciones de TG y TC después del tratamiento con dieta hipocalórica y ejercicio controlado. Por lo tanto, la adición de entrenamiento supervisado a la intervención nutricional parece ser una buena alternativa para el refuerzo del efecto del tratamiento

Role of the monocarboxylate transporter MCT1 in the uptake of lactate during active recovery.

PURPOSE: We assessed the role of monocarboxylate transporter 1 (MCT1) on lactate clearance during an active recovery after high-intensity exercise, by comparing genetic groups based on the T1470A (rs1049434) MCT1 polymorphism, whose influence on lactate transport has been proven. METHODS: Sixteen young male elite field hockey players participated in this study. All of them completed two 400 m maximal run tests performed on different days, followed by 40 min of active or passive recovery. Lactate samples were measured immediately after the tests, and at min 10, 20, 30 and 40 of the recoveries. Blood lactate decreases were calculated for each 10-min period. Participants were distributed into three groups according to the T1470A polymorphism (TT, TA and AA). RESULTS: TT group had a lower blood lactate decrease than AA group during the 10-20 min period of the active recovery (p = 0.018). This period had the highest blood lactate for the whole sample, significantly differing from the other periods (p ≤ 0.003). During the passive recovery, lactate declines were constant except for the 0-10-min period (p ≤ 0.003), suggesting that liver uptake is similar in all the genetic groups, and that the difference seen during the active recovery is mainly due to muscle lactate uptake. CONCLUSIONS: These differences according to the polymorphic variant T1470A suggest that MCT1 affects the plasma lactate decrease during a crucial period of active recovery, where the maximal lactate amount is cleared (i.e. 10-20 min period).

Influence of ADRB2 Gln27Glu and ADRB3 Trp64Arg polymorphisms on body weight and body composition changes after a controlled weight-loss intervention.

The ß-2 and ß-3 adrenergic receptors (ADRB2 and ADRB3) are thought to play a role in energy expenditure and lipolysis. However, the effects of the ADRB2 glutamine (Gln) 27 glutamic acid (glutamate) (Glu) and ADRB3 tryptophan (Trp) 64 arginine (Arg) polymorphisms on weight loss remain controversial. The aim of this study was to investigate the effect of these polymorphisms on changes in weight and body composition during a controlled weight-loss program. One hundred seventy-three healthy overweight and obese participants (91 women, 82 men) aged 18-50 years participated in a 22-week-long intervention based on a hypocaloric diet and exercise. They were randomly assigned to 1 of 4 groups: strength, endurance, strength and endurance combined, and physical activity recommendations only. Body weight, body mass index (BMI), and body composition variables were assessed before and after the intervention. Genetic analysis was carried out according to standard protocols. No effect of the ADRB2 gene was shown on final weight, BMI, or body composition, although in the supervised male group, Glu27 carriers tended to have greater weight (p = 0.019, 2.5 kg) and BMI (p = 0.019, 0.88 kg/m(2)) reductions than did noncarriers. There seems to be an individual effect of the ADRB3 polymorphism on fat mass (p = 0.004) and fat percentage (p = 0.036), in addition to an interaction with exercise for fat mass (p = 0.038). After the intervention, carriers of the Arg64 allele had a greater fat mass and fat percentage than did noncarriers (p = 0.004, 2.8 kg). In conclusion, the ADRB2 Gln27Glu and ADRB3 Trp64Arg polymorphisms may influence weight loss and body composition, although the current evidence is weak; however, further studies are necessary to clarify their roles.

Influence of the MCT1-T1470A polymorphism (rs1049434) on blood lactate accumulation during different circuit weight trainings in men and women.

OBJECTIVES: To analyze the effect of the MCT1 T1470A polymorphism (rs1049434) on venous blood lactate levels in men and women, during three different circuit weight training protocols. DESIGN: Cross-sectional laboratory study. METHODS: 14 women and 15 men, all caucasian and moderately active, performed three circuit training sessions (Weight Machine Protocol, Free Weight Protocol and Combined Protocol) at 70% of the 15 repetition maximum and 70% of the heart rate reserve, in non-consecutive days. The sessions included three sets of a circuit of eight exercises. Venous lactate measurements were obtained after each set and during the recoveries between sets (i.e. in min 3, 5, 7 and 9). One-way analysis of covariance and one-way analysis of covariance with repeated measures were used to determine differences among genotypes (AA, TA and TT) in lactate levels. RESULTS: In men, the AA group had higher lactate values than the TT group in all the measures (p ≤ 0.03) except for the average lactate during the Weight Machine Protocol, in which a borderline significant difference was found (p=0.07). We did not observe differences across genotypes in females. CONCLUSIONS: Our data suggest an influence of the MCT1 polymorphism on lactate transport across sarcolemma in males. Future studies on lactate transport and metabolism should take into account the gender-specific results.

Three generations of hereditary long-QT syndrome with complete penetrance caused by the p.G316E KCNQ1 mutation.

This report describes a three-generation family with a severe phenotype of long-QT syndrome-1 (LQTS-1) caused by a single nucleotide mutation in the KQT-like, voltage-gated potassium channel-1 gene (KCNQ1; MIM 607542). Two members of the family died suddenly in their childhood, and all eight surviving members with prolonged QT have a heterozygous missense mutation resulting in a glycine-to-glutamate amino acid substitution at position 316 of the potassium channel. In this family, the newly reported mutation, guanine-to-adenosine at position 947 in the KCNQ1 gene, exhibits a dominant trait of LQTS with complete penetrance, in contrast to the relatively reduced clinical penetrance found in most LQTS cases.

Un nuevo Pentaplex para el análisis de STRs del cromosoma X / A new Pentaplex to analize STRs on X-chromosome

Se describe un nuevo método para amplificar cinco marcadores de SRTs del cromosoma X de interés en medicina legal: fosforribosil transferasa humana (HPRTB), DXS101, el receptor de andrógenos (ARA), DXS 7423 y DXS 8377. Los marcadores se amplificaron adecuadamente con amplímeros marcados con fluorocromos, en una única reacción PCR, para posteriormente proceder al análisis de los fragmentos en un sistema de electroforesis capilar. Los alelos más comunes de cada locus se secuenciaron y se utilizaron como control para tipar las muestras desconocidas (AU)

A new pentaplex system to study short tandem repeat markers of forensic interest on X chromosome.

A new method has been optimised to amplify five X chromosome short tandem repeat (STR) markers of interest in forensic medicine: human phosphoribosyl transferase (HPRTB), DXS101, androgen receptor (ARA), DXS7423 and DXS8377. Markers were conveniently amplified in a single PCR reaction with fluorochrome-labelled primers, which allowed the analysis of fragment sizes after injection into a capillary electrophoresis system. The most common alleles of each locus were sequenced and used in a control ladder to type unknown samples.

Sequence structure and population data of two X-linked markers: DXS7423 and DXS8377.

DXS7423 and DXS8377 are two microsatellite markers located in the q28 band of chromosome X. We developed a protocol to amplify both markers in a single reaction, sequenced the most common alleles and studied allele frequencies in a Spanish population sample. DXS7423 allele variability was due to different numbers of (TCCA) repeats and five different alleles were found with apparent sizes between 181 and 197 bp. The probability of discrimination (PD) was 87% for female samples, and the expected probability of exclusion (PE) was 71%. DXS8377 appeared as a highly polymorphic marker with variable numbers of (CTC), (TCC) and (TTC) repeats. We found 18 alleles of different sizes (204-258 bp) and the PD and PE were 99% and 93%, respectively. These data suggest that DXS7423 and DXS8377 can be very useful markers for genetic forensic studies.