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A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia.

Abstract：

:We have sequenced all mitochondrial tRNA genes from a patient with chronic progressive external ophthalmoplegia (CPEO) and mitochondrial myopathy, who had no detectable large mtDNA deletions. Direct sequencing failed to detect previously reported mutations and showed a heteroplasmic mutation at nucleotide 12,276 in the tRNA(Leu(CUN)) gene, in the dihydrouridine stem, which is highly conserved through the species during evolution. RFLP analyses confirmed that 18% of muscle mtDNA harbored the mutation, while it was absent from DNA of fibroblasts and lymphocytes of the proband and in 110 patients with other encephalomyopathies. To date, besides large and single nucleotide deletions, several point mutations on mitochondrial tRNA genes have been reported in CPEO patients, but only three were in the gene coding for tRNA(Leu(CUN)).

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Cardaioli E,Da Pozzo P,Radi E,Dotti MT,Federico A

doi

10.1016/j.bbrc.2004.11.170

subject

Has Abstract

pub_date

2005-02-18 00:00:00

pages

675-8

issue

3

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(04)02740-8

journal_volume

327

pub_type

杂志文章

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