Molecular Genetics of Autosomal-Recessive Demyelinating Charcotmarie-Tooth Disease (Review Article)
- VernacularTitle:Аутосомын Рецессив Генээр Удамших, Миелингүйжих Шарко-Мари-Тутын Өвчний (Шмтө4) Молекул Генетикийн Үндэс (Хэвлэлийн Тойм)
- Author:
Bilegtsaikhan Ts
;
Gandolgor Ts
;
Oyungerel G
;
Munjhtuvshin N
;
Munkhbat B
- Publication Type:Review
- Keywords:
ARCMT1;
GDAP1;
MTMR2;
SH3TC2;
NDRG1;
EGR2;
PRX;
CTDP1;
FGD4;
SAC3
- From:MONGOLIAN MEDICAL SCIENCES
2010;151(1):37-42
- CountryMongolia
- Language:Mongolian
-
Abstract:
Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogenous group of disorders. Useful classifi cation is still clinical and electrophysiological classifi cation that divides CMT into CMT type 1 - demyelinating form and CMT type 2 - axonal form. An intermediate type is also increasingly being determined. Inheritance can be autosomal dominant, X-linked and autosomal recessive (AR). In this review, we will focus on the clinical and/or electrophysiological findings and molecular genetics of ARCMT1 (CMT4). Ten genes, GDAP1, MTMR2, MTMR13, SH3TC2, NDRG1, EGR2, PRX, CTDP1, FGD4 and SAC3 have been identifi ed in the CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F, CCFDN, CMT4H and CMT4J types, respectively. In addition, susceptibility locus on chromosome 10q23 has been found for CMT4G disease. Molecular genetics of demyelinating ARCMT are large disabilities of proteins in Schwann cells and their functions (transcriptional factor, protein transport, protein sorting, intra/extra cellular compartments, signal transduction, cell division, and cell differentiation). It has been rising necessary requirements to defi ne clinical and genetic subtypes of the ARCMT1, prevent from disease, give reproductive and genetic counselling, and develop methods for reducing and clear disease risk factor.
- Full text:P020151216323755668893.pdf
