A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency |
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| Authors: | Paola Da Pozzo Elena Cardaioli Edoardo Malfatti Gian Nicola Gallus Alessandro Malandrini Carmen Gaudiano Gianna Berti Federica Invernizzi Massimo Zeviani Antonio Federico |
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| Affiliation: | 1Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Siena, Italy;2Unit of Molecular Neurogenetics, Pierfranco e Luisa Mariani Center for the Study of Children''s Mitochondrial Disorders, C. Besta Neurological Institute Foundation-IRCCS, Via L. Temolo, Milan, Italy |
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| 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) tRNAPro gene. A biochemical analysis of respiratory chain enzymes in muscle revealed isolated complex I deficiency. This is the fourth pathogenic tRNAPro 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 tRNAPro mutations. |
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| Keywords: | mtDNA transfer RNAPro mitochondrial disease |
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