Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease

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Abstract

We analyzed the mitochondrial DNA of blood cells of 5 patients from a Chinese family with myoclonic epilepsy and ragged-red fiber disease. The results showed that in all the affected individuals there was a point mutation from A to G at the 8344th nucleotide pair, which was located in the tRNALys gene. No such a mutation was found in mtDNA of either unaffected members of that family or other healthy Chinese subjects.

These findings are consistent with the recent report of Shoffner etal. (Cell 1990, 61:931–937), and confirm that the point mutation is indeed the cause of this disease.

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  • Movement disorders and mitochondrial disease

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    Citation Excerpt :

    Tsairis et al. (1973) were the first to report the presence of mitochondrial abnormalities on skeletal muscles of patients with familial myoclonic epilepsy, and a few years later Fukuhara et al. (1980) provided the first description of MERRF syndrome. The majority of patients with MERRF harbor the A8344G mutation, a heteroplasmic point mutation in the mitochondrial transfer RNA for lysine (Shoffner et al., 1990; Berkovic et al., 1991; Hammans et al., 1991; Noer et al., 1991; Shih et al., 1991; Zeviani et al., 1991). Since the report of this mutation in 1990 (Shoffner et al., 1990), a number of others have been found to account for a minority of patients with typical or atypical MERRF phenotype.

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