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A new mitochondrial DNA deletion associated with diabetic amyotrophy, diabetic myoatrophy and diabetic fatty liver
Author(s) -
Hinokio Yoshinori,
Suzuki Susumu,
Komatu Koga,
Ohtomo Masataka,
Onoda Masatoshi,
Matsumoto Masahiro,
Hirali Satoshi,
Sato Yoshinori,
Akai Hiroaki,
Abe Koji,
Miyabayasi Shigeaki,
Abe Ryuzo,
Toyota Takayoshi
Publication year - 1995
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880181428
Subject(s) - amyotrophy , mitochondrial dna , diabetic neuropathy , diabetes mellitus , diabetic nephropathy , medicine , fatty liver , endocrinology , nephropathy , muscle biopsy , mitochondrial respiratory chain , biology , mitochondrion , gene , biopsy , genetics , atrophy , disease
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. © 1995 John Wiley & Sons, Inc.