A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.

TitleA novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.
Publication TypeJournal Article
Year of Publication2001
AuthorsNapoli, L, Bordoni, A, Zeviani, M, Hadjigeorgiou, GM, Sciacco, M, Tiranti, V, Terentiou, A, Moggio, M, Papadimitriou, A, Scarlato, G, Comi, GP
JournalNeurology
Volume57
Issue12
Pagination2295-8
Date Published2001 Dec 26
ISSN0028-3878
KeywordsAdenine Nucleotide Translocator 1, Adult, Aged, Biopsy, Chromosomes, Human, Pair 4, Female, Greece, Humans, Male, Middle Aged, Muscles, Mutation, Missense, Ophthalmoplegia, Chronic Progressive External, Pedigree
Abstract

Autosomal dominant progressive external ophthalmoplegia (adPEO) is caused by mutations in at least three different genes: ANT1 (chromosome 4q34-35), TWINKLE, and POLG. The ANT1 gene encodes the adenine nucleotide translocator-1 (ANT1). We identified a heterozygous T293C mutation of the ANT1 gene in a Greek family with adPEO. The resulting leucine to proline substitution likely modifies the secondary structure of the ANT1 protein. ANT1 gene mutations may account for adPEO in families with different ethnic backgrounds.

DOI10.1212/wnl.57.12.2295
Alternate JournalNeurology
Citation Key10.1212/wnl.57.12.2295
PubMed ID11756613
Grant List1180 / / Telethon / Italy