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Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.

Authors: Wang, K  Takahashi, Y  Gao, ZL  Wang, GX  Chen, XW  Goto, J  Lou, JN  Tsuji, S 
Citation: Wang K, etal., Neurogenetics. 2009 Oct;10(4):337-45. Epub 2009 May 21.
Pubmed: (View Article at PubMed) PMID:19458970
DOI: Full-text: DOI:10.1007/s10048-009-0194-0

Leber hereditary optic neuropathy and dystonia (LDYT) is a mitochondrial disorder associated with variable combinations of vision loss and progressive generalized dystonia. LDYT is a unique oxidative phosphorylation disorder caused by mutations in mitochondrial ND6 or ND4 gene. In this paper, we describe a Chinese family with 18 LDYT patients. The comprehensive nucleotide sequence analysis of the entire mitochondrial genome using resequencing microarray revealed a mutation (mtND3*10197A (m.10197G>A)) substituting a threonine for a highly conserved alanine at codon 47 of MTND3 on the background of haplogroup D4b. Quantitative analysis of the heteroplasmy of the mutation revealed a homoplasmy in the leukocytes of all the affected individuals on the maternal side. This is the first description of the ND3 mutation causing LDYT. The mtND3*10197A (m.10197G>A) mutation has recently been described in French and Korean patients with Leigh syndrome. These findings suggest that the clinical presentations associated with the mtND3*10197A (m.10197G>A) mutation (ND3) are much wider, encompassing those of LDYT and Leigh syndrome.


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RGD Object Information
RGD ID: 5508703
Created: 2011-10-19
Species: All species
Last Modified: 2011-10-19
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.