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

Paola Da Pozzo; Elena Cardaioli; Edoardo Malfatti; Gian Nicola Gallus; Alessandro Malandrini; Carmen Gaudiano; Gianna Berti; Federica Invernizzi; Massimo Zeviani; Antonio Federico

doi:10.1038/ejhg.2009.12

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

Paola Da Pozzo, Elena Cardaioli, Edoardo Malfatti, Gian Nicola Gallus, Alessandro Malandrini, Carmen Gaudiano, Gianna Berti, Federica Invernizzi, Massimo Zeviani, Antonio Federico

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article

Abstract

We present a patient with ataxia, retinitis pigmentosa, dysarthria, neurosensorial deafness, nystagmus and leukoencephalopathy. A novel heteroplasmic G to A transition at nucleotide 15975 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.

Original language	English
Pages (from-to)	1092-1096
Number of pages	5
Journal	European Journal of Human Genetics
Volume	17
Issue number	8
DOIs	https://doi.org/10.1038/ejhg.2009.12
Publication status	Published - 2009

ASJC Scopus subject areas

Genetics(clinical)
Genetics

Access to Document

10.1038/ejhg.2009.12

Fingerprint Dive into the research topics of 'A novel mutation in the mitochondrial tRNA<sup>Pro</sup> gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency'. Together they form a unique fingerprint.

Cite this

Da Pozzo, P., Cardaioli, E., Malfatti, E., Gallus, G. N., Malandrini, A., Gaudiano, C., Berti, G., Invernizzi, F., Zeviani, M., & Federico, A. (2009). A novel mutation in the mitochondrial tRNA^Pro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. European Journal of Human Genetics, 17(8), 1092-1096. https://doi.org/10.1038/ejhg.2009.12

A novel mutation in the mitochondrial tRNA^Pro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. / Da Pozzo, Paola; Cardaioli, Elena; Malfatti, Edoardo; Gallus, Gian Nicola; Malandrini, Alessandro; Gaudiano, Carmen; Berti, Gianna; Invernizzi, Federica; Zeviani, Massimo; Federico, Antonio.

In: European Journal of Human Genetics, Vol. 17, No. 8, 2009, p. 1092-1096.

Research output: Contribution to journal › Article

Da Pozzo, P, Cardaioli, E, Malfatti, E, Gallus, GN, Malandrini, A, Gaudiano, C, Berti, G, Invernizzi, F, Zeviani, M & Federico, A 2009, 'A novel mutation in the mitochondrial tRNA^Pro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency', European Journal of Human Genetics, vol. 17, no. 8, pp. 1092-1096. https://doi.org/10.1038/ejhg.2009.12

Da Pozzo, Paola ; Cardaioli, Elena ; Malfatti, Edoardo ; Gallus, Gian Nicola ; Malandrini, Alessandro ; Gaudiano, Carmen ; Berti, Gianna ; Invernizzi, Federica ; Zeviani, Massimo ; Federico, Antonio. / A novel mutation in the mitochondrial tRNA^Pro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. In: European Journal of Human Genetics. 2009 ; Vol. 17, No. 8. pp. 1092-1096.

@article{6b3a64eadbdb42f3af76aa03a99dd04b,

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

abstract = "We present a patient with ataxia, retinitis pigmentosa, dysarthria, neurosensorial deafness, nystagmus and leukoencephalopathy. A novel heteroplasmic G to A transition at nucleotide 15975 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.",

author = "{Da Pozzo}, Paola and Elena Cardaioli and Edoardo Malfatti and Gallus, {Gian Nicola} and Alessandro Malandrini and Carmen Gaudiano and Gianna Berti and Federica Invernizzi and Massimo Zeviani and Antonio Federico",

year = "2009",

doi = "10.1038/ejhg.2009.12",

language = "English",

volume = "17",

pages = "1092--1096",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "8",

}

TY - JOUR

T1 - A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

AU - Da Pozzo, Paola

AU - Cardaioli, Elena

AU - Malfatti, Edoardo

AU - Gallus, Gian Nicola

AU - Malandrini, Alessandro

AU - Gaudiano, Carmen

AU - Berti, Gianna

AU - Invernizzi, Federica

AU - Zeviani, Massimo

AU - Federico, Antonio

PY - 2009

Y1 - 2009

N2 - We present a patient with ataxia, retinitis pigmentosa, dysarthria, neurosensorial deafness, nystagmus and leukoencephalopathy. A novel heteroplasmic G to A transition at nucleotide 15975 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.

AB - We present a patient with ataxia, retinitis pigmentosa, dysarthria, neurosensorial deafness, nystagmus and leukoencephalopathy. A novel heteroplasmic G to A transition at nucleotide 15975 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.

UR - http://www.scopus.com/inward/record.url?scp=67749106029&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=67749106029&partnerID=8YFLogxK

U2 - 10.1038/ejhg.2009.12

DO - 10.1038/ejhg.2009.12

M3 - Article

C2 - 19223931

AN - SCOPUS:67749106029

VL - 17

SP - 1092

EP - 1096

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 8

ER -