A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

被引：22
作者：
Da Pozzo, Paola [1 ]
Cardaioli, Elena [1 ]
Malfatti, Edoardo [1 ]
Gallus, Gian Nicola [1 ]
Malandrini, Alessandro [1 ]
Gaudiano, Carmen [1 ]
Berti, Gianna [1 ]
Invernizzi, Federica [2 ]
Zeviani, Massimo [2 ]
Federico, Antonio [1 ]
机构：
[1] Univ Siena, Sch Med, Dept Neurol Neurosurg & Behav Sci, I-53100 Siena, Italy
[2] C Besta Neurol Inst Fdn IRCCS, Pierfranco & Luisa Mariani Ctr Study Childrens Mi, Unit Mol Neurogenet, Milan, Italy
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2009年 / 17卷 / 08期
关键词：
mtDNA; transfer RNA(Pro); mitochondrial disease; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; POINT MUTATION; A3243G MUTATION; DNA; DISORDERS; FEATURES; DISEASE; SEQUENCE; PATIENT;
D O I：
10.1038/ejhg.2009.12
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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. European Journal of Human Genetics (2009) 17, 1092-1096; doi:10.1038/ejhg.2009.12; published online 18 February 2009
引用
收藏
页码：1092 / 1096
页数：5
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