TY - JOUR
T1 - A new mitochondrial DNA deletion associated with diabetic amyotrophy, diabetic myoatrophy and diabetic fatty liver
AU - Hinokio, Yoshinori
AU - Suzuki, Susumu
AU - Komatu, Koga
AU - Ohtomo, Masataka
AU - Onoda, Masatoshi
AU - Matsumoto, Masahiro
AU - Hirali, Satoshi
AU - Sato, Yoshinori
AU - Akai, Hiroaki
AU - Abe, Koji
AU - Miyabayasi, Shigeaki
AU - Abe, Ryuzo
AU - Toyota, Takayoshi
PY - 1995
Y1 - 1995
N2 - 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.
AB - 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.
KW - chronic renal failure
KW - deletion
KW - diabetic amyotrophy
KW - diabetic fatty liver
KW - mitochondrial DNA
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U2 - 10.1002/mus.880181428
DO - 10.1002/mus.880181428
M3 - Article
C2 - 7603516
AN - SCOPUS:0029008728
VL - 18
SP - S142-S149
JO - Muscle and Nerve
JF - Muscle and Nerve
SN - 0148-639X
IS - 14 S
ER -