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Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese.

Abstract：

:Leber hereditary optic neuropathy (LHON) was the first disease to be linked to the presence of a mitochondrial DNA (mtDNA) mutation. Nowadays over 95% of LHON cases are known to be caused by one of three primary mutations (m.11778G>A, m.14484T>C, and m.3460G>A). Reports for other (rare) primary mutations in LHON patients are not infrequent. Among those is the mutation m.3635G>A in the MT-ND1 gene which was reported to be pathogenic in a Russian LHON family. In this study, we report on a Chinese family with clinical features of LHON but without any of the three well-known primary mutations. Analysis of the complete mitochondrial genome in the proband revealed the presence of m.3635G>A and m.6228C>T, along with a full array of other variants that suggest the haplogroup M7b1. Evolutionary analysis indicates that site 3635, but not 6228, is highly conserved in vertebrates. Protein secondary-structure modeling for the MT-ND1 protein harboring amino acid change S110N indicates that mutant m.3635G>A decreases the protein hydrophobicity. Our current observations provide further support for a pathogenic role of m.3635G>A in patients with LHON.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Zhang AM,Zou Y,Guo X,Jia X,Zhang Q,Yao YG

doi

10.1016/j.bbrc.2009.06.051

subject

Has Abstract

pub_date

2009-08-21 00:00:00

pages

392-5

issue

2

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(09)01181-4

journal_volume

386

pub_type

杂志文章

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