MELAS- and Kearns-Sayre-type commutation with myopathy and autoimmune polyendocrinopathy

Kinji Ohno, Masahiko Yamamoto, Andrew G Engel, C. Michel Harper, Lewis Rowland Roberts, Gerry H. Tan, Vahab Fatourechi

Research output: Contribution to journalArticle

42 Citations (Scopus)

Abstract

A 35-year-old woman with features of Kearns-Sayre syndrome consisting of progressive ptosis, ophthalmoparesis, mitochondrial myopathy, and pigmentary retinopathy also had autoimmune polyglandular syndrome type II (Addison's disease, autoimmune insulin-dependent diabetes mellitus, Hashimoto's thyroiditis, and primary ovarian failure). There was no history of similarly affected relatives. Analysis of muscle mitochondrial DNA (mtDNA) revealed a 2,532-bp deletion of the type seen in Kearns-Sayre syndrome as well as a heteroplasmic A3243G mutation in the tRNA-Leu(UUR) gene of the type seen in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). The patient's blood and her mother's blood harbored the A3243G mutation but not the deletion, and the maternal grandmother's blood had neither mutation. In muscle, the species of mtDNA harboring the deletion was exclusively associated with the species harboring the A3243G mutation, suggesting that the point mutation predisposed to the large-scale deletion. The mtDNA species with both mutations accounted for 88% of total muscle mtDNA. Other and as yet unrecognized point mutations in mtDNA might also be associated with, and possible causally related to, large-scale mtDNA deletions.

Original languageEnglish (US)
Pages (from-to)761-766
Number of pages6
JournalAnnals of Neurology
Volume39
Issue number6
DOIs
StatePublished - Jun 1996

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Autoimmune Polyendocrinopathies
Lactic Acidosis
Brain Diseases
Muscular Diseases
Mitochondrial DNA
Kearns-Sayre Syndrome
Mitochondrial Myopathies
Mutation
Point Mutation
Muscles
RNA, Transfer, Leu
Mothers
Addison Disease
Ophthalmoplegia
Hashimoto Disease
Retinitis Pigmentosa
Sequence Deletion
Type 1 Diabetes Mellitus
Genes

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

MELAS- and Kearns-Sayre-type commutation with myopathy and autoimmune polyendocrinopathy. / Ohno, Kinji; Yamamoto, Masahiko; Engel, Andrew G; Harper, C. Michel; Roberts, Lewis Rowland; Tan, Gerry H.; Fatourechi, Vahab.

In: Annals of Neurology, Vol. 39, No. 6, 06.1996, p. 761-766.

Research output: Contribution to journalArticle

Ohno, Kinji ; Yamamoto, Masahiko ; Engel, Andrew G ; Harper, C. Michel ; Roberts, Lewis Rowland ; Tan, Gerry H. ; Fatourechi, Vahab. / MELAS- and Kearns-Sayre-type commutation with myopathy and autoimmune polyendocrinopathy. In: Annals of Neurology. 1996 ; Vol. 39, No. 6. pp. 761-766.
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