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DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease

Title
DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease
Authors
Hong, Young BinKang, JungheeKim, Ji HyunLee, JinhoKwak, GeonHyun, Young SeNam, Soo HyunHong, Hyun DaeChoi, Yu-RiJung, Sung-ChulKoo, HeasooLee, Ji EunChoi, Byung-OkChung, Ki Wha
Ewha Authors
구혜수정성철
SCOPUS Author ID
구혜수scopus; 정성철scopus
Issue Date
2016
Journal Title
HUMAN MUTATION
ISSN
1059-7794JCR Link1098-1004JCR Link
Citation
vol. 37, no. 5, pp. 473 - 480
Keywords
DGAT2Charcot-Marie-Tooth diseaseaxonal neuropathyexomezebrafish
Publisher
WILEY-BLACKWELL
Indexed
SCI; SCIE; SCOPUS WOS
Abstract
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy and is a genetically and clinically heterogeneous disorder. We examined a Korean family in which two individuals had an autosomal-dominant axonal CMT with early-onset, sensory ataxia, tremor, and slow disease progression. Pedigree analysis and exome sequencing identified a de novo missense mutation (p.Y223H) in the diacylglycerol O-acyltransferase 2 (DGAT2) gene. DGAT2 encodes an endoplasmic reticulum-mitochondrial-associated membrane protein, acyl-CoA:diacylglycerol acyltransferase, which catalyzes the final step of the triglyceride (TG) biosynthesis pathway. The patient showed consistently decreased serum TG levels, and overexpression of the mutant DGAT2 significantly inhibited the proliferation of mouse motor neuron cells. Moreover, the variant form of human DGAT2 inhibited the axonal branching in the peripheral nervous system of zebrafish. We suggest that mutation of DGAT2 is the novel underlying cause of an autosomal-dominant axonal CMT2 neuropathy. This study will help provide a better understanding of the pathophysiology of axonal CMT and contribute to the molecular diagnostics of peripheral neuropathies.
DOI
10.1002/humu.22959
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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