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1.
Immunogenetics ; 70(8): 547-551, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29397401

RESUMO

The HLA-DRB1*15:01 allele has a demonstrated risk for the development of multiple sclerosis (MS) in most populations around the world. The single nucleotide polymorphism (SNP) rs3129934 is found in linkage disequilibrium with the risk haplotype formed by the HLA-DRB1*15:01 and HLA-DQB1*06:02 alleles, and it is considered a reliable marker of the presence of this haplotype. Native Americans have a null or low prevalence of MS. In this study, we sought to identify the frequency of rs3129934 in the Wixárika ethnic group as well as in Mestizo (mixed race) patients with MS and in controls from western Mexico. Through real-time polymerase chain reaction (PCR) using TaqMan probes, we analyzed the allele and genotype frequencies of rs3129934 in Mestizo individuals with and without MS and in 73 Wixárika subjects from the state of Jalisco, Mexico. The Wixárika subjects were homozygote for the C allele of rs3129934. The allele and genotype frequency in Mestizos with MS was similar to that of other MS populations with Caucasian ancestry. The absence of the T risk allele rs3129934 (associated with the haplotype HLA-DRB1*15:01, HLA-DQ1*06:02) in this sample of Wixárika subjects is consistent with the unreported MS in this Amerindian group, related to absence of such paramount genetic risk factor.


Assuntos
Antígeno HLA-DR2/genética , Esclerose Múltipla/genética , Adulto , Estudos de Casos e Controles , Etnicidade/genética , Feminino , Frequência do Gene , Predisposição Genética para Doença , Antígenos HLA-DQ/genética , Antígenos HLA-DQ/imunologia , Antígeno HLA-DR2/imunologia , Cadeias HLA-DRB1/genética , Cadeias HLA-DRB1/imunologia , Humanos , Indígenas Norte-Americanos/genética , Desequilíbrio de Ligação , Masculino , México , Esclerose Múltipla/imunologia , Polimorfismo de Nucleotídeo Único , Fatores de Risco
2.
Genet Couns ; 22(1): 1-10, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21614982

RESUMO

Gingival fibromatosis can be present as an isolated form or be part of a genetic disease. The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional mental retardation. We studied a girl aged five years with clinical and radiological features of the ZLS, additionally she presented deafness not previously described in the ZLS, as only partial hearing loss was reported in some patients. The father presented some facial features suggestive of ZLS, nevertheless he did not have gingival fibromatosis or hypertrichosis. We suggest that this case supports that ZLS can be part a contiguous genes syndrome or be consequence ofa gene mutation with wide variable expression. The present report supports that ZLS has a wide clinical spectrum.


Assuntos
Anormalidades Múltiplas , Aberrações Cromossômicas , Anormalidades Craniofaciais , Fibromatose Gengival , Deformidades Congênitas da Mão , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Criança , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Surdez/diagnóstico , Surdez/genética , Diagnóstico Diferencial , Feminino , Fibromatose Gengival/diagnóstico , Fibromatose Gengival/genética , Expressão Gênica/genética , Genes Dominantes/genética , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/genética , Humanos , Fenótipo
3.
Indian J Cancer ; 53(3): 345-348, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-28244453

RESUMO

BACKGROUND: Gastric cancer (GC) is the third worldwide leading cause of cancer-related death affecting both sexes. The aberrant expression of epidermal growth factor receptor (EGFR) gene has been detected in many human epithelial malignancies and linked to advanced disease, more aggressive phenotype, and poor prognosis. AIMS: To analyze the relation that the expression of EGFR in gastric tumors holds with pathological characteristics and with the germline polymorphisms -216 G>T, -191 C>A, (CA) n IVS1, and R521K. MATERIALS AND METHODS: We studied 22 biopsies from gastric tumors obtained by endoscopy. EGFR expression was determined by relative quantification real-time polymerase chain reaction with the glyceraldehyde-3-phosphate dehydrogenase reference gene (as for messenger RNA [mRNA]) and by immunohistochemistry (IHC) (as for protein). EGFR germline polymorphisms were analyzed by sequencing, GeneScan, and restriction fragment length polymorphisms. RESULTS: EGFR mRNA expression was increased (>2-fold) in 13.6% of GC cases, decreased (<0.5-fold) in 68.2%, and normal in 18.2%; overexpression was related to well-differentiated gastric tumors, whereas underexpression was linked to moderate or poorly differentiated gastric tumors (P < 0.001). EGFR protein expression was high (IHC 2+ and 3+) in 29.4% of gastric tumors and was normal or low (score 0 to 1+) in 70.6% cases. EGFR expression, in both mRNA and protein, was not related to any EGFR polymorphism (P > 0.05). CONCLUSIONS: Most gastric tumors showed low EGFR expression (mRNA and protein), whereas EGFR overexpression was related to well-differentiated gastric tumors. Furthermore, germinal polymorphisms -216, -191, (CA) n IVS1, and R521K were not related to EGFR expression (mRNA or protein).


Assuntos
Receptores ErbB/metabolismo , Neoplasias Gástricas/enzimologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Receptores ErbB/genética , Feminino , Expressão Gênica , Mutação em Linhagem Germinativa , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Reação em Cadeia da Polimerase em Tempo Real , Neoplasias Gástricas/genética , Neoplasias Gástricas/patologia
4.
J Proteomics ; 112: 301-12, 2015 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-25106788

RESUMO

Several studies have demonstrated that the serum of patients with cancer contains antibodies that react with a group of autoantigens denominated tumor-associated antigens (TAA). TAA can be detected prior to clinical diagnosis; thus, they would be ideal biomarkers for early detection of cancer, using only a few microliters of a patient's serum. In the current study, we used an immune proteomic approach, combining two-dimensional (2D) electrophoresis, Western blot, and matrix-associated laser desorption/ionization-mass spectrometry (MALDI-MS) methods to identify TAA in the sera of patients diagnosed with breast cancer. Sera were obtained from 36 newly diagnosed patients with stage II breast cancer and those from 36 healthy volunteers were evaluated for the presence of the TAA. Alpha 2HS-glycoprotein (AHSG) antibodies were detected in 33 of 36 patients with breast cancer (91.7%) and in only 3 of 36 healthy patients (controls, 8.3%). Sensitivity of detection of autoantibodies against AHSG in patients with breast cancer was 91.7%. AHSG was detected in cancer tissue by immunohistochemistry. Our results strongly suggest that the presence of serum autoantibodies against AHSG protein may be useful as serum biomarkers for early-stage breast cancer screening and minimally invasive diagnosis in Mexican populations. BIOLOGICAL SIGNIFICANCE: In the present study, 2D immunoblot analysis was used to make a screening in samples of sera from patients with a diagnosis of early-stage breast cancer, in order to identify some autoantibodies that react against TAA. Proteins identified in the present study, particularly alpha 2HS-glycoprotein (AHSG), might be useful as potential biomarkers for breast cancer in early stages for Mexican populations.


Assuntos
Anticorpos Antineoplásicos/sangue , Antígenos de Neoplasias/sangue , Autoanticorpos/sangue , Neoplasias da Mama/sangue , alfa-2-Glicoproteína-HS/metabolismo , Biomarcadores Tumorais/sangue , Feminino , Humanos , México , Estadiamento de Neoplasias , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz/métodos
5.
Oxid Med Cell Longev ; 2013: 709493, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23861993

RESUMO

UNLABELLED: Multiple sclerosis (MS) is a chronic inflammatory disease, which leads to focal plaques of demyelination and tissue injury in the central nervous system. Oxidative stress is also thought to promote tissue damage in multiple sclerosis. Current research findings suggest that omega-3 polyunsaturated fatty acids (PUFAs) such as eicosapenta-enoic acid (EPA) and docosahexaenoic acid (DHA) contained in fish oil may have anti-inflammatory, antioxidant, and neuroprotective effects. The aim of the present work was to evaluate the efficacy of fish oil supplementation on serum proinflammatory cytokine levels, oxidative stress markers, and disease progression in MS. 50 patients with relapsing-remitting MS were enrolled. The experimental group received orally 4 g/day of fish oil for 12 months. The primary outcome was serum TNF α levels; secondary outcomes were IL-1 ß 1b, IL-6, nitric oxide catabolites, lipoperoxides, progression on the expanded disability status scale (EDSS), and annualized relapses rate (ARR). Fish oil treatment decreased the serum levels of TNF α , IL-1 ß , IL-6, and nitric oxide metabolites compared with placebo group (P ≤ 0.001). There was no significant difference in serum lipoperoxide levels during the study. No differences in EDSS and ARR were found. CONCLUSION: Fish oil supplementation is highly effective in reducing the levels of cytokines and nitric oxide catabolites in patients with relapsing-remitting MS.


Assuntos
Interferon beta/uso terapêutico , Interleucina-1beta/sangue , Interleucina-6/sangue , Esclerose Múltipla/sangue , Esclerose Múltipla/tratamento farmacológico , Estresse Oxidativo/efeitos dos fármacos , Fator de Necrose Tumoral alfa/sangue , Adulto , Animais , Feminino , Humanos , Interferon beta-1b , Masculino
6.
Anat Histol Embryol ; 38(4): 279-81, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19614629

RESUMO

The ultrastructure of the Harderian gland of Atlantic bottlenose dolphin (Tursiops truncatus) was examined by scanning electron microscopy (SEM). We found the following surface features: the typical round appearance of the ascinar glandular unit with a finely granular surface, a thin cortex and immediately below two types of cells: type I cells (characterized by small lipid vacuoles) and type II cells (characterized by large lipid vacuoles). It has been suggested that different cells forms represent a single cell type in varying activity states. Additionally, a coalescent tubular complex, a small balloon-like structures and large globular structures were observed. These structures may be reservoirs of secretion products.


Assuntos
Golfinho Nariz-de-Garrafa/anatomia & histologia , Glândula de Harder/ultraestrutura , Animais , Masculino , Microscopia Eletrônica de Varredura/veterinária , Órbita/anatomia & histologia , Órbita/ultraestrutura
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