Multiple Tumors in Mitochondrial Diabetes Associated With tRNALeu(UUR) Mutation at Position 3264
- Yoshihiko Suzuki, MD134,
- Susumu Suzuki, MD2,
- Matsuo Taniyama, MD3,
- Taro Muramatsu, MD4,
- Shigeo Ohta, PHD5,
- Yoshitomo Oka, MD2,
- Yoshihito Atsumi, MD1 and
- Kempei Matsuoka, MD1
- 1Saiseikai Central Hospital, Tokyo, Japan
- 2Division of Molecular Metabolism and Diabetes, Department of Internal Medicine, Tohoku University Graduate School of Medicine, Miyagi, Japan
- 3Fujigaoka Hospital, Showa University, Kanagawa, Japan
- 4Department of Neuropsychiatry, Keio University, Tokyo, Japan
- 5Department of Biochemistry and Cell Biology, Institute of Gerontology, Nippon Medical School, Kanagawa, Japan
In 1997, we reported the first identified case of mitochondrial diabetes caused by a T-to-C transition at position 3264 (1). The proband was a 64-year-old man. His family tree revealed maternally inherited diabetes. He had diabetes, cerebellar ataxia, hearing loss, olfactory dysfunction, bilateral facial nerve palsy, oculomotor palsy, and cervical lipoma. Heteroplasmy of the 3264 mutation, maternal inheritance of diabetes, absence of 3264 mutation in control subjects, and symptoms related to mitochondrial …
