Objective: Estimate whether there is an association between the (CAG)n repeat in the ATXN2 gene in the Mexican population and type 2 diabetes mellitus (DM).
Methods: Epidemiological case-control study, including healthy people and diabetics. (CAG)n expansion was detected by end-point polymerase chain reaction (PCR). PCR outputs were analyzed by electrophoresis (PAGE 8%) and silver nitrate staining.
Results: (CAG)n nucleotide allele distribution in the study population was similar to that reported in central Mexico. The 22-repeat allele is the most frequent; however, there is an association with carriers of long repeats in the normal range with diabetes.
Conclusions: The results suggest that the (CAG)n repeat of the ATXN2 gene could be a causal factor for type 2 DM.
Download full-text PDF |
Source |
---|
Arthritis Rheumatol
December 2024
Institute for Clinical and Translational Research, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
Objective: Idiopathic inflammatory myopathies (myositis, IIMs) are rare, systemic autoimmune disorders that lead to muscle inflammation, weakness, and extra-muscular manifestations, with a strong genetic component influencing disease development and progression. Previous genome-wide association studies identified loci associated with IIMs. In this study, we imputed data from two prior genome-wide myositis studies and analyzed the largest myositis dataset to date to identify novel risk loci and susceptibility genes associated with IIMs and its clinical subtypes.
View Article and Find Full Text PDFStem Cell Res Ther
November 2024
School of Life Science and Biotechnology, BK21 FOUR KNU Creative BioResearch Group, Kyungpook National University, Daegu, 41566, Korea.
Neurol Genet
December 2024
From the Neurology (A.M.B., L.M.J., R.G., J.M.M.-T., K.A.J., H.B.); Speech Pathology (G.M., J.S., J.R.D., H.C., R.L.U.); Psychology (M.M.M.); and Radiology (J.L.W.), Mayo Clinic, Rochester, MN.
Objectives: To describe a case of spinocerebellar ataxia presenting with progressive apraxia of speech (AOS).
Methods: A 54-year-old man with progressive speech changes was seen clinically and referred to our observational research program on degenerative speech and language disorders. He underwent detailed speech-language and neurologic assessments and multimodal neuroimaging studies.
Mol Neurobiol
November 2024
Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No. 37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Emerging evidence suggests potential disease modifying roles of ATXN1, ATXN2, and ATXN3 in amyotrophic lateral sclerosis (ALS). We aimed to provide a comprehensive variants profile of the ATXN1, ATXN2, and ATXN3 genes and examine the association of these variants with the risk and clinical characteristics of ALS. We screened and analyzed the rare variants in a cohort of 2220 ALS patients from Southwest China, using controls from the Genome Aggregation Database (gnomAD) and the China Metabolic Analytics Project (ChinaMAP).
View Article and Find Full Text PDFVision Res
January 2025
Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear, Boston, MA, USA.
Glaucoma is a leading cause of irreversible blindness worldwide. The most common form, primary open-angle glaucoma (POAG), is a genetically complex trait with high heritability. Genome-wide association studies have identified significant POAG and IOP association of a genomic region on chromosome 12 that includes ATXN2 as well as 7 other genes.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!