A new mitochondrial DNA deletion associated with diabetic amyotrophy, diabetic myoatrophy and diabetic fatty liver

✍ Scribed by Dr. Yoshinori Hinokio; Dr. Susumu Suzuki; Dr. Koga Komatu; Dr. Masataka Ohtomo; Dr. Masatoshi Onoda; Dr. Masahiro Matsumoto; Dr. Satoshi Hirali; Dr. Yoshinori Sato; Dr. Hiroaki Akai; Dr. Koji Abe; Dr. Shigeaki Miyabayasi; Dr. Ryuzo Abe; Dr. Takayoshi Toyota

• Publisher: John Wiley and Sons
• Year: 1995
• Tongue: English
• Weight: 770 KB
• Volume: 18
• Category: Article
• ISSN: 0148-639X
• DOI: 10.1002/mus.880181428

✦ Synopsis

Mitochondrial dysfunctions of the muscle in diabetic amyotrophy and of the liver in diabetic fatty liver have been reported. We investigated mitochondrial gene mutations in three cases: (1) a patient with diabetic amyotrophy in the muscles of the lower extremities, and neuropathy; (2) 5 diabetics with myoatrophy, diabetic nephropathy, and chronic renal failure; and (3) an IDDM patient with a diabetic fatty liver. We identified a 5778-bp deletion (8214-13991) in mitochondrial DNA from the muscle and liver biopsy specimens by the primer shift PCR and PCR-direct sequence methods. It is speculated that 5778-bp deletion is due to homogeneous recombination in the 7-bp repeat sequence of TCCTAGA flanking the region deleted in the mitochondrial DNA. Determination of respiratory chain enzyme activities in fresh muscle mitochondria demonstrated the defect in complex I activity. The deletion covers areas coding ND3, ND4, ND4L, and ND5 in complex I. The 5778-bp deletion might cause a defect in mitochondrial oxidative phosphorylation and contribute to the pathogenesis of diabetic amyotrophy, myoatrophy with diabetic nephropathy, and chronic renal failure, as well as diabetic fatty liver in IDDM.