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Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.

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Title: Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.
Authors: Sato, Kazunori Browse this author
Yabe, Ichiro Browse this author →KAKEN DB
Yaguchi, Hiroaki Browse this author
Nakano, Fumihito Browse this author
Kunieda, Yasuyuki Browse this author
Saitoh, Shinji Browse this author →KAKEN DB
Sasaki, Hidenao Browse this author →KAKEN DB
Keywords: Progressive external ophthalmoplegia
Deoxyribonucleic acid polymerase gamma gene
Parkinsonism
Mitochondria
Issue Date: Jul-2011
Publisher: Springer-Verlag
Journal Title: Journal of neurology
Volume: 258
Issue: 7
Start Page: 1327
End Page: 1332
Publisher DOI: 10.1007/s00415-011-5936-x
PMID: 21301859
Abstract: Mutations in the progressive external ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1) and DNA polymerase gamma (POLG) genes were reported in patients with progressive external ophthalmoplegia and parkinsonism. However, the genotype-phenotype correlation and pathophysiology of these syndromes are still unknown. In order to define the molecular basis of progressive external ophthalmoplegia and parkinsonism, we screened for mutations in PEO1, ANT1, POLG genes and the whole mitochondrial genome in two families. In results, we identified a compound heterozygous POLG substitutions, c.830A>T (p.H277L) and c.2827C>T (p.R943C) in one of the families. These two mutations in the coding region of POLG alter conserved amino acids in the exonuclease and polymerase domains, respectively, of the POLG protein. Neither of these substitutions was found in the 100 chromosomes of ethnically matched control subjects. In the other family, no mutations were detected in any of the three genes and the whole mitochondrial genome in the blood sample, although mitochondrial DNA deletions were observed in the muscle biopsy sample. Progressive external ophthalmoplegia and parkinsonism are genetically heterogenous disorders, and part of this syndrome may be caused by mutations in other, unknown genes.
Rights: The original publication is available at www.springerlink.com
Type: article (author version)
URI: http://hdl.handle.net/2115/49690
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 矢部 一郎

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