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. 2001 Feb;49(2):195-201.
doi: 10.1002/1531-8249(20010201)49:2<195::aid-ana39>3.0.co;2-m.

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

J Loeffen  1 , O Elpeleg, J Smeitink, R Smeets, S Stöckler-Ipsiroglu, H Mandel, R Sengers, F Trijbels, L van den Heuvel
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Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

J Loeffen et al. Ann Neurol. 2001 Feb.

Abstract

Human complex I is built up and regulated by genes encoded by the mitochondrial DNA (mtDNA) as well as the nuclear DNA (nDNA). In recent years, attention mainly focused on the relation between complex I deficiency and mtDNA mutations. However, a high percentage of consanguinity and an autosomal-recessive mode of inheritance observed within our patient group as well as the absence of common mtDNA mutations make a nuclear genetic cause likely. The NDUFS2 protein is part of complex I of many pro- and eukaryotes. The nuclear gene coding for this protein is therefore an important candidate for mutational detection studies in enzymatic complex I deficient patients. Screening of patient NDUFS2 cDNA by reverse transcriptase-polymerase chain reaction (RT-PCR) in combination with direct DNA sequencing revealed three missense mutations resulting in the substitution of conserved amino acids in three families.

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