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Mitochondrion. 2010 Jun;10(4):358-61. doi: 10.1016/j.mito.2010.02.002. Epub 2010 Mar 1.

Analysis of functional consequences of haplogroup J polymorphisms m.4216T>C and m.3866T>C in human MT-ND1: mutagenesis of homologous positions in Escherichia coli.

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  • 1Department of Clinical Medicine, Neurology, University of Oulu, 90014 Oulu, Finland. reetta.hinttala@oulu.fi

Abstract

MtDNA sequence variation is presumed to be neutral in effect, but associations with diseases and mtDNA haplogroups have been reported. The aim here was to evaluate the functional consequences of m.4216T>C present in haplogroup J. Furthermore, we evaluated m.3866T>C in MT-ND1, a variant detected in a child belonging to haplogroup J and with an isolated complex I deficiency. Homologous substitutions were introduced into Escherichia coli. NADH dehydrogenase domain activity of NDH-1 with either one or both mutations was markedly decreased suggesting that m.4216T>C and m.3866T>C may have an effect on the structural integrity of complex I.

Copyright 2010 Mitochondria Research Society. Published by Elsevier B.V. All rights reserved.

PMID:
20197120
[PubMed - indexed for MEDLINE]
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