Mitochondrial complex I activity is significantly decreased in a patient with maternally inherited type 2 diabetes mellitus and hypertrophic cardiomyopathy associated with mitochondrial DNA C3310T mutation: a cybrid study.

doi:10.1016/j.diabres.2006.03.024

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Mitochondrial complex I activity is significantly decreased in a patient with maternally inherited type 2 diabetes mellitus and hypertrophic cardiomyopathy associated with mitochondrial DNA C3310T mutation: a cybrid study.

Diabetes research and clinical practice - 1 Nov 2006

Chen Jing, Hattori Yukiko, Nakajima Kazuo, Eizawa Takayuki, Ehara Takashi, Koyama Masamichi, Hirai Tetsuya, Fukuda Youji, Kinoshita Moritoshi, Sugiyama Atsushi, Hayashi Jun-Ichi, Onaya Toshimasa, Kobayashi Tetsuro, Tawata Masato

Abstract excerpt

Mitochondrial respiratory function in a patient with maternally inherited type 2 diabetes mellitus and hypertrophic cardiomyopathy associated with heteroplasmic mitochondrial DNA (mtDNA) C3310T mutation, which replaces the second amino acid of NADH dehydrogenase 1 (ND1) from a hydrophobic Proline to a hydrophilic Serine, was investigated. Mitochondrial respiratory function solely due to mtDNA C3310T mutation was...

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PMID: 16828917
DOI: 10.1016/j.diabres.2006.03.024

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