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MELAS syndrome in a patient with a point mutation in MTTS1
Author(s) -
Lindberg C.,
Moslemi A.R.,
Oldfors A.
Publication year - 2008
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.2007.00913.x
Subject(s) - encephalopathy , gastroenterology , medicine , epilepsy , lactic acidosis , ataxia , restriction fragment length polymorphism , melas syndrome , pathology , muscle biopsy , endocrinology , surgery , mitochondrial myopathy , biology , mitochondrial dna , genetics , biopsy , genotype , gene , psychiatry
Background, Objective and Methods – We describe a female patient with a mitochondrial encephalopathy, lactic acidosis and stroke‐like episodes syndrome. As a child, she developed epilepsy and stroke‐like episodes giving cognitive impairment and ataxia but no hearing impairment. At the age of 44 years, she suffered a cerebral sinus thrombosis which was warfarin treated. One month later, she developed an episode of severe acidosis associated with encephalopathy and myelopathy. Results – She was found to harbour a 7512T>C mutation in the mitochondrial encoded tRNA Ser(UCN) gene ( MTTS1 ). The mutation load was 91% in muscle and 24% in blood. Enzyme histochemical analysis of the muscle tissue showed numerous cytochrome c oxidase (COX)‐negative fibres. Restriction fragment length polymorphism (RFLP) analysis of single muscle fibres showed significantly higher level (median 97%, range: 94–99%) of the mutation in the COX‐negative fibres compared with COX‐positive fibres (median 36%, range: 12–91%), demonstrating the pathogenic effect of the mutation. Different levels of heteroplasmy (range 34–61%) were detected in hair shafts analysed by RFLP. Conclusion – This case adds to the spectrum of clinical presentations, i.e. sinus thrombosis, in patients having MTTS1 mutations.