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Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

Abstract：

:We describe a novel mitochondrial ND2 mutation (T4681C) in a patient presenting with Leigh Syndrome. Biochemical analyses revealed a low isolated complex I activity in patient's fibroblasts, blood and skeletal muscle. Mutant transmitochondrial cybrid clones retained the specific complex I defect, demonstrating the mitochondrial genetic origin of the disease. The mutation leads to a L71P substitution at an evolutionary conserved amino acid stretch. By two-dimensional blue native electrophoresis (2D-BN-SDS-PAGE), decreased complex I levels were observed together with an accumulation of specific assembly intermediates, suggesting that the mutation disturbs the complex I assembly pathway.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Ugalde C,Hinttala R,Timal S,Smeets R,Rodenburg RJ,Uusimaa J,van Heuvel LP,Nijtmans LG,Majamaa K,Smeitink JA

doi

10.1016/j.ymgme.2006.08.003

subject

Has Abstract

pub_date

2007-01-01 00:00:00

pages

10-4

issue

1

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(06)00283-6

journal_volume

90

pub_type

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