Novel deletion mutation in GAA in Iranian glycogen storage disease type II patients
Publish place: 2nd International & 10th National Neurogenetic Congress,
Publish Year: 1396
نوع سند: مقاله کنفرانسی
زبان: English
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شناسه ملی سند علمی:
NGCMED10_080
تاریخ نمایه سازی: 16 تیر 1397
Abstract:
Introduction: Pompe disease (PD) or glycogen storage disease type II is known as a rare progressiveneuromuscular disease in glucogenolis pathway characterized by the involvement of skeletal and cardiacmuscles. Alteration in the acid alpha-glucosidase (GAA) gene usually result to reduced enzyme GAA activity. Inpresent study, we investigate the mutations of GAA and enzyme GAA activity from two patients with PD andtheir first-degree relatives.Materials and Methods: In our cross-sectional study, GAA enzyme activity assay was assessed using tandemmass spectrometry. Polymerase chain reaction and Sanger sequencing were performed for GAA analysis.Results: GAA enzyme activity was significantly decreased in patients compared to the normal range (P = 0.02).Two individuals showed ten alterations in the GAA sequence, in which one of them (c. 1650del G) has not beenpreviously described in the literature. A single Guanine deletion (del-G) was detected at codon 551 in exon 12.Conclusion: According to the literature, the detected change is a novel mutation. We hypothesized that thediscovered deletion in the GAA might lead to a reduced activity of the gene product and is in agreement withbiochemical findings.
Keywords:
Authors
Milad Ebrahimi
Department of Immunology, Faculty of Medicine, University of Shahed, Tehran, Iran
Masnsoor Salehi
Department of Genetics and Molecular Biology, Faculty of Medicine, University of Isfahan Medical Sciences, Isfahan, Iran