Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia

Dario Ronchi; Elisa Fassone; Andreina Bordoni; Monica Sciacco; Valeria Lucchini; Alessio Di Fonzo; Mafalda Rizzuti; Irene Colombo; Laura Napoli; Patrizia Ciscato; Maurizio Moggio; Alessandra Cosi; Martina Collotta; Stefania Corti; Nereo Bresolin; Giacomo P. Comi

doi:10.1016/j.jns.2011.05.042

Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia

Dario Ronchi, Elisa Fassone, Andreina Bordoni, Monica Sciacco, Valeria Lucchini, Alessio Di Fonzo, Mafalda Rizzuti, Irene Colombo, Laura Napoli, Patrizia Ciscato, Maurizio Moggio, Alessandra Cosi, Martina Collotta, Stefania Corti, Nereo Bresolin, Giacomo P. Comi

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

Abstract

Maintenance and replication of mitochondrial DNA require the concerted action of several factors encoded by nuclear genome. The mitochondrial helicase Twinkle is a key player of replisome machinery. Heterozygous mutations in its coding gene, PEO1, are associated with progressive external ophthalmoplegia (PEO) characterised by ptosis and ophthalmoparesis, with cytochrome c oxidase (COX)-deficient fibres, ragged-red fibres (RRF) and multiple mtDNA deletions in muscle. Here we describe clinical, histological and molecular features of two patients presenting with mitochondrial myopathy associated with PEO. PEO1 sequencing disclosed two novel mutations in exons 1 and 4 of the gene, respectively. Although mutations in PEO1 exon 1 have already been described, this is the first report of mutation occurring in exon 4.

Original language	English
Pages (from-to)	173-176
Number of pages	4
Journal	Journal of the Neurological Sciences
Volume	308
Issue number	1-2
DOIs	https://doi.org/10.1016/j.jns.2011.05.042
Publication status	Published - Sept 15 2011

Keywords

COX deficiency
Mitochondrial myopathy
mtDNA multiple deletions
PEO1 (C10ORF2)
Progressive external ophthalmoplegia

ASJC Scopus subject areas

Clinical Neurology
Neurology

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10.1016/j.jns.2011.05.042

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Ronchi, D., Fassone, E., Bordoni, A., Sciacco, M., Lucchini, V., Di Fonzo, A., Rizzuti, M., Colombo, I., Napoli, L., Ciscato, P., Moggio, M., Cosi, A., Collotta, M., Corti, S., Bresolin, N., & Comi, G. P. (2011). Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia. Journal of the Neurological Sciences, 308(1-2), 173-176. https://doi.org/10.1016/j.jns.2011.05.042

Ronchi, D, Fassone, E, Bordoni, A, Sciacco, M, Lucchini, V, Di Fonzo, A, Rizzuti, M, Colombo, I, Napoli, L, Ciscato, P, Moggio, M, Cosi, A, Collotta, M, Corti, S , Bresolin, N & Comi, GP 2011, 'Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia', Journal of the Neurological Sciences, vol. 308, no. 1-2, pp. 173-176. https://doi.org/10.1016/j.jns.2011.05.042

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abstract = "Maintenance and replication of mitochondrial DNA require the concerted action of several factors encoded by nuclear genome. The mitochondrial helicase Twinkle is a key player of replisome machinery. Heterozygous mutations in its coding gene, PEO1, are associated with progressive external ophthalmoplegia (PEO) characterised by ptosis and ophthalmoparesis, with cytochrome c oxidase (COX)-deficient fibres, ragged-red fibres (RRF) and multiple mtDNA deletions in muscle. Here we describe clinical, histological and molecular features of two patients presenting with mitochondrial myopathy associated with PEO. PEO1 sequencing disclosed two novel mutations in exons 1 and 4 of the gene, respectively. Although mutations in PEO1 exon 1 have already been described, this is the first report of mutation occurring in exon 4.",

keywords = "COX deficiency, Mitochondrial myopathy, mtDNA multiple deletions, PEO1 (C10ORF2), Progressive external ophthalmoplegia",

author = "Dario Ronchi and Elisa Fassone and Andreina Bordoni and Monica Sciacco and Valeria Lucchini and {Di Fonzo}, Alessio and Mafalda Rizzuti and Irene Colombo and Laura Napoli and Patrizia Ciscato and Maurizio Moggio and Alessandra Cosi and Martina Collotta and Stefania Corti and Nereo Bresolin and Comi, {Giacomo P.}",

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AU - Ronchi, Dario

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AU - Bordoni, Andreina

AU - Sciacco, Monica

AU - Lucchini, Valeria

AU - Di Fonzo, Alessio

AU - Rizzuti, Mafalda

AU - Colombo, Irene

AU - Napoli, Laura

AU - Ciscato, Patrizia

AU - Moggio, Maurizio

AU - Cosi, Alessandra

AU - Collotta, Martina

AU - Corti, Stefania

AU - Bresolin, Nereo

AU - Comi, Giacomo P.

PY - 2011/9/15

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N2 - Maintenance and replication of mitochondrial DNA require the concerted action of several factors encoded by nuclear genome. The mitochondrial helicase Twinkle is a key player of replisome machinery. Heterozygous mutations in its coding gene, PEO1, are associated with progressive external ophthalmoplegia (PEO) characterised by ptosis and ophthalmoparesis, with cytochrome c oxidase (COX)-deficient fibres, ragged-red fibres (RRF) and multiple mtDNA deletions in muscle. Here we describe clinical, histological and molecular features of two patients presenting with mitochondrial myopathy associated with PEO. PEO1 sequencing disclosed two novel mutations in exons 1 and 4 of the gene, respectively. Although mutations in PEO1 exon 1 have already been described, this is the first report of mutation occurring in exon 4.

AB - Maintenance and replication of mitochondrial DNA require the concerted action of several factors encoded by nuclear genome. The mitochondrial helicase Twinkle is a key player of replisome machinery. Heterozygous mutations in its coding gene, PEO1, are associated with progressive external ophthalmoplegia (PEO) characterised by ptosis and ophthalmoparesis, with cytochrome c oxidase (COX)-deficient fibres, ragged-red fibres (RRF) and multiple mtDNA deletions in muscle. Here we describe clinical, histological and molecular features of two patients presenting with mitochondrial myopathy associated with PEO. PEO1 sequencing disclosed two novel mutations in exons 1 and 4 of the gene, respectively. Although mutations in PEO1 exon 1 have already been described, this is the first report of mutation occurring in exon 4.

KW - COX deficiency

KW - Mitochondrial myopathy

KW - mtDNA multiple deletions

KW - PEO1 (C10ORF2)

KW - Progressive external ophthalmoplegia

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Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia

Abstract

Keywords

ASJC Scopus subject areas

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