A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.

TitleA novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.
Publication TypeJournal Article
Year of Publication2009
AuthorsDa Pozzo, P, Cardaioli, E, Malfatti, E, Gallus, GNicola, Malandrini, A, Gaudiano, C, Berti, G, Invernizzi, F, Zeviani, M, Federico, A
JournalEur J Hum Genet
Volume17
Issue8
Pagination1092-6
Date Published2009 Aug
ISSN1476-5438
KeywordsAge of Onset, Ataxia, Base Sequence, Brain Diseases, Deafness, Electron Transport Complex I, Female, Genes, Mitochondrial, Hearing Loss, Sensorineural, Humans, Middle Aged, Molecular Sequence Data, Mutation, Missense, Nucleic Acid Conformation, Nystagmus, Congenital, Pedigree, Retinitis Pigmentosa, RNA, Transfer, Pro
Abstract

We present a patient with ataxia, retinitis pigmentosa, dysarthria, neurosensorial deafness, nystagmus and leukoencephalopathy. A novel heteroplasmic G to A transition at nucleotide 15 975 was found, affecting the T arm of the mitochondrial (mt) tRNA(Pro) gene. A biochemical analysis of respiratory chain enzymes in muscle revealed isolated complex I deficiency. This is the fourth pathogenic tRNA(Pro) point mutation to be associated with an mt disorder. The result highlights the importance of molecular dissection of mtDNA in patients with defined mt disorder and confirms the clinical and biochemical heterogeneity associated with tRNA(Pro) mutations.

DOI10.1038/ejhg.2009.12
Alternate JournalEur. J. Hum. Genet.
Citation Key10.1038/ejhg.2009.12
PubMed ID19223931
PubMed Central IDPMC2986557