2003•Diabetes CareRequires access
High Degree of Mitochondrial 3243 Mutation in Gastric Biopsy Specimen in a Patient With MELAS and Diabetes Complicated by Marked Gastrointestinal Abnormalities
Kaori Inoue, Hiroshi Ikegami, Tomomi Fujisawa, Yumiko Kawabata, Maki Shintani, Koji Nijima, Masaya Ono, Masanori Nishino, Michiko Itoi‐Babaya, Naru Babaya, Toshio Ogihara
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Abstract
A point mutation of mitochondrial DNA at nucleotide position 3243 has been shown to cause mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) (1). This mutation, however, is also found in maternally inherited diabetes and deafness (MIDD) (2), which accounts for ∼1% of the diabetic population in Japan (3). The same point mutation of mitochondrial DNA causes a wide range of symptoms that have been suggested to be due to the difference in the degree of heteroplasmy; thus, the proportion of the mutant mitochondrial DNA is divergent among different tissues (4). Little evidence, however, is available …