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Point mutations in the mitochondrial tRNA(Lys) gene: implications for pathogenesis and mechanism.

Abstract：

:MERRF (myoclonic epilepsy with ragged-red fibers) is a severe, multisystem disorder characterized by myoclonus, seizures, progressive cerebellar syndrome, muscle weakness, and the presence of ragged-red fibers in the muscle biopsy. MERRF is associated with heteroplasmic point mutations, either A8344G or T8356C, in the gene encoding the mitochondrial tRNA(Lys). The human rho degree cell system was utilized to examine the phenotypic consequences of these mutations, and to investigate their molecular genetic causes. Wild-type and mutant transmitochondrial cell lines harboring a pathogenic point mutation at either A8344G or T8356C in the human mitochondrial tRNA(Lys) gene were isolated and examined. Mitochondrial transformants containing 100% mutated mitochondrial DNAs (mtDNAs) exhibited severe defects in respiratory chain activity, in the rates of protein synthesis, and in the steady-state levels of mitochondrial translation products as compared with mitochondrial transformants containing 100% wild-type mtDNAs. In addition, both mutant cell lines exhibited the presence of aberrant mitochondrial translation products. These results demonstrate that two different mtDNA point mutations in tRNA(Lys) result in fundamentally identical defects at the cellular level, and that these specific protein synthesis abnormalities contribute to the pathogenesis of MERRF.

journal_name

Mol Cell Biochem

journal_title

Molecular and cellular biochemistry

authors

Masucci JP,Schon EA,King MP

subject

Has Abstract

pub_date

1997-09-01 00:00:00

pages

215-9

issue

1-2

eissn

0300-8177

issn

1573-4919

journal_volume

174

pub_type

杂志文章

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