| Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism. | |
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MedLine Citation:
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PMID: 21301859 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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Kazunori Sato; Ichiro Yabe; Hiroaki Yaguchi; Fumihito Nakano; Yasuyuki Kunieda; Shinji Saitoh; Hidenao Sasaki |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-2-8 |
Journal Detail:
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Title: Journal of neurology Volume: - ISSN: 1432-1459 ISO Abbreviation: - Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-2-8 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0423161 Medline TA: J Neurol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Neurology, Hokkaido University Graduate School of Medicine, N15W7, Kita-ku, Sapporo, 060-8638, Japan. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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