Novel deletion mutation in GAA in Iranian glycogen storage disease type II patients
- سال انتشار: 1396
- محل انتشار: دومین کنگره بین المللی و دهمین همایش ملی نوروژنتیک ایران
- کد COI اختصاصی: NGCMED10_080
- زبان مقاله: انگلیسی
- تعداد مشاهده: 406
نویسندگان
Department of Immunology, Faculty of Medicine, University of Shahed, Tehran, Iran
Department of Genetics and Molecular Biology, Faculty of Medicine, University of Isfahan Medical Sciences, Isfahan, Iran
چکیده
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.کلیدواژه ها
Acid alpha-glucosidase, Alteration, Polymerase chain reaction, Pompe diseaseمقالات مرتبط جدید
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