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Mayr, J.A.* ; Bodamer, O.* ; Haack, T.B. ; Zimmermann, F.A.* ; Madignier, F. ; Prokisch, H. ; Rauscher, C.* ; Koch, J.* ; Sperl, W.*

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.

Mol. Genet. Metab. 103, 358-361 (2011)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Respiratory chain enzymes consist of multiple subunits encoded either by the mitochondrial or by the nuclear genome. Recently the first X-chromosomal mutations in complex I deficient males have been described. Heterozygous female carriers did not seem to be affected. Here, we describe a girl initially presenting with mild muscular hypotonia, a moderate lactic acidosis and an increased beta-hydroxybutyrate/acetoacetate ratio. Biochemical investigations of a muscle biopsy revealed a deficiency in the amount and activity of complex I. Mutation screening of all structural subunits of complex I identified a heterozygous mutation c.94G>C, p.Gly32Arg in the X-chromosomal NDUFA1 gene. Analysis of the cDNA showed that 72% of the expressed mRNA was mutated in the muscle biopsy sample. Investigation of the X-inactivation pattern demonstrated that 74% of the paternally inherited allele was active in the muscle. This is the first report of an X-chromosomally inherited respiratory chain defect in a heterozygous female.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Complex; NDUFA1; X-inactivation; Respiratory chain; Mitochondrial energy metabolism
ISSN (print) / ISBN 1096-7192
e-ISSN 1096-7192
Zeitschrift Molecular Genetics and Metabolism
Quellenangaben Band: 103, Heft: 4, Seiten: 358-361 Artikelnummer: , Supplement: ,
Verlag Elsevier
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)