A novel heteroplasmic tRNASer(UCN) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss

Elena Cardaioli; Paola Da Pozzo; Gian Nicola Gallus; Alessandro Malandrini; Simona Gambelli; Carmen Gaudiano; Edoardo Malfatti; Carlo Viscomi; Enza Zicari; Gianna Berti; Giovanni Serni; Maria Teresa Dotti; Antonio Federico

doi:10.1016/j.nmd.2007.05.001

A novel heteroplasmic tRNA^Ser(UCN) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss

Elena Cardaioli, Paola Da Pozzo, Gian Nicola Gallus, Alessandro Malandrini, Simona Gambelli, Carmen Gaudiano, Edoardo Malfatti, Carlo Viscomi, Enza Zicari, Gianna Berti, Giovanni Serni, Maria Teresa Dotti, Antonio Federico

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article

Abstract

We sequenced all mitochondrial tRNA genes from a patient with sporadic external ophthalmoplegia (PEO) and 5% COX-negative fibers in muscle biopsy, who had no detectable large mtDNA deletions. Direct sequencing showed a heteroplasmic mutation at nucleotide 7506 in the dihydrouridine stem of the tRNA^Ser(UCN) gene. RFLP analysis confirmed that 30% of muscle and 20% of urinary epithelium mtDNA harbored the mutation, which was absent in other tissues of the proband as well as in mtDNA of his mother and 100 patients with various encephalomyopathies. Several point mutations on mitochondrial tRNA genes have been reported in PEO patients without large-scale rearrangements of mtDNA but no point mutations have hitherto been found in the gene coding for tRNA^Ser(UCN).

Original language	English
Pages (from-to)	681-683
Number of pages	3
Journal	Neuromuscular Disorders
Volume	17
Issue number	9-10
DOIs	https://doi.org/10.1016/j.nmd.2007.05.001
Publication status	Published - Oct 2007

Keywords

Mitochondrial DNA
Progressive external ophthalmoplegia
tRNA

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Neurology

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Cardaioli, E., Da Pozzo, P., Gallus, G. N., Malandrini, A., Gambelli, S., Gaudiano, C., Malfatti, E., Viscomi, C., Zicari, E., Berti, G., Serni, G., Dotti, M. T., & Federico, A. (2007). A novel heteroplasmic tRNA^Ser(UCN) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss. Neuromuscular Disorders, 17(9-10), 681-683. https://doi.org/10.1016/j.nmd.2007.05.001

A novel heteroplasmic tRNA^Ser(UCN) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss. / Cardaioli, Elena; Da Pozzo, Paola; Gallus, Gian Nicola; Malandrini, Alessandro; Gambelli, Simona; Gaudiano, Carmen; Malfatti, Edoardo; Viscomi, Carlo; Zicari, Enza; Berti, Gianna; Serni, Giovanni; Dotti, Maria Teresa; Federico, Antonio.

In: Neuromuscular Disorders, Vol. 17, No. 9-10, 10.2007, p. 681-683.

Research output: Contribution to journal › Article

Cardaioli, E, Da Pozzo, P, Gallus, GN, Malandrini, A, Gambelli, S, Gaudiano, C, Malfatti, E, Viscomi, C, Zicari, E, Berti, G, Serni, G, Dotti, MT & Federico, A 2007, 'A novel heteroplasmic tRNA^Ser(UCN) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss', Neuromuscular Disorders, vol. 17, no. 9-10, pp. 681-683. https://doi.org/10.1016/j.nmd.2007.05.001

Cardaioli, Elena ; Da Pozzo, Paola ; Gallus, Gian Nicola ; Malandrini, Alessandro ; Gambelli, Simona ; Gaudiano, Carmen ; Malfatti, Edoardo ; Viscomi, Carlo ; Zicari, Enza ; Berti, Gianna ; Serni, Giovanni ; Dotti, Maria Teresa ; Federico, Antonio. / A novel heteroplasmic tRNA^Ser(UCN) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss. In: Neuromuscular Disorders. 2007 ; Vol. 17, No. 9-10. pp. 681-683.

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title = "A novel heteroplasmic tRNASer(UCN) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss",

abstract = "We sequenced all mitochondrial tRNA genes from a patient with sporadic external ophthalmoplegia (PEO) and 5% COX-negative fibers in muscle biopsy, who had no detectable large mtDNA deletions. Direct sequencing showed a heteroplasmic mutation at nucleotide 7506 in the dihydrouridine stem of the tRNASer(UCN) gene. RFLP analysis confirmed that 30% of muscle and 20% of urinary epithelium mtDNA harbored the mutation, which was absent in other tissues of the proband as well as in mtDNA of his mother and 100 patients with various encephalomyopathies. Several point mutations on mitochondrial tRNA genes have been reported in PEO patients without large-scale rearrangements of mtDNA but no point mutations have hitherto been found in the gene coding for tRNASer(UCN).",

keywords = "Mitochondrial DNA, Progressive external ophthalmoplegia, tRNA",

author = "Elena Cardaioli and {Da Pozzo}, Paola and Gallus, {Gian Nicola} and Alessandro Malandrini and Simona Gambelli and Carmen Gaudiano and Edoardo Malfatti and Carlo Viscomi and Enza Zicari and Gianna Berti and Giovanni Serni and Dotti, {Maria Teresa} and Antonio Federico",

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AU - Cardaioli, Elena

AU - Da Pozzo, Paola

AU - Gallus, Gian Nicola

AU - Malandrini, Alessandro

AU - Gambelli, Simona

AU - Gaudiano, Carmen

AU - Malfatti, Edoardo

AU - Viscomi, Carlo

AU - Zicari, Enza

AU - Berti, Gianna

AU - Serni, Giovanni

AU - Dotti, Maria Teresa

AU - Federico, Antonio

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AB - We sequenced all mitochondrial tRNA genes from a patient with sporadic external ophthalmoplegia (PEO) and 5% COX-negative fibers in muscle biopsy, who had no detectable large mtDNA deletions. Direct sequencing showed a heteroplasmic mutation at nucleotide 7506 in the dihydrouridine stem of the tRNASer(UCN) gene. RFLP analysis confirmed that 30% of muscle and 20% of urinary epithelium mtDNA harbored the mutation, which was absent in other tissues of the proband as well as in mtDNA of his mother and 100 patients with various encephalomyopathies. Several point mutations on mitochondrial tRNA genes have been reported in PEO patients without large-scale rearrangements of mtDNA but no point mutations have hitherto been found in the gene coding for tRNASer(UCN).

KW - Mitochondrial DNA

KW - Progressive external ophthalmoplegia

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