کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8456696 1548740 2018 47 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Molecular genetics ‎characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی تحقیقات سرطان
پیش نمایش صفحه اول مقاله
Molecular genetics ‎characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia
چکیده انگلیسی
Choroideremia (CHM) is a rare form of X-linked chorioretinal dystrophy that is caused by mutations in the CHM gene. Mutations in the Rab escort protein-1 (REP-1), an ubiquitously encoded protein of the CHM gene, lead to prenylation and vesicle trafficking deficiency in the protein, resulting in the progressive degeneration of choriocapillaris, retinal pigment epithelium (RPE), and photoreceptors. Despite previous studies concerning this disease, no effective diagnostic tests or established therapeutic interventions currently exist for CHM. In this paper, we reviewed ‎the pathogenic ‎effects of synonymous hotspot mutation in the CHM gene and the genotypic-phenotypic associations in families with CHM. In addition, we employed a combination of molecular dynamics simulations and principal component analysis to gain insight into the underlying molecular basis of these deleterious and disease-causing hotspot mutation ‎analogs. These computer predictions provide strong evidence that the C > T nonsynonymous hotspot mutations of CHM spectrum contribute to overall RPE retinopathy. These findings increase our understanding of the CHM ‎pathogenesis, which may potentially define a new approach in developing novel symbiotic strategies for genetic diagnosis and specific treatment of inherited retinal diseases.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Mutation Research/Reviews in Mutation Research - Volume 775, January–March 2018, Pages 39-50
نویسندگان
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