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Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is asoociated with mitochondrial myopathy and cardiomyopathyPalmieri, Luigi ...Multiple mitochondrial DNA deletions are associated with clinically heterogeneous disorders transmitted as mendelian traits. Dominant missense mutations were found in the gene encoding the heart and ... skeletal muscle-specific isoform of the adenine nucleotide translocator (ANT1) in families with autosomal dominant progressive external opthalmoplegia and in a sporadic patient. We herein report on a sporadic patient who presented with hypertrophic cardiomyopathy, mild myopathy with exercise intolerance and lactic acidosis but no ophthalmoplegia. A muscle biopsy showed the presence ofnumerous ragged-red fibers, and Southern blot analysis disclosed multiple deletions of muscle mitochondrial DNA. Molecular analysis revealed a C to A homozygous mutation at nucleotide 368 of the ANT1 gene. The mutation converteda highly conserved alanine into an aspartic acid at codon 123 and wasabsent in 500 control individuals. This is the first report of a recessive mutation in the ANT1 gene. The clinical and biochemical features are differentfrom those found in dominant ANT1 mutations, resembling those described in ANT1 knockout mice. No ATP uptake was measured in proteoliposomesreconstituted with protein extracts from the patient's muscle. The equivalent mutation in AAC2, the yeast ortholog of human ANT1, resulted ina complete loss of transport activity and in the inability to rescue the severe Oxidative Phosphorylation phenotype displayed by WB-12, an AAC1lAAC2 defective strain. Interestingly, exposure to reactive oxygen species (ROS) scavengers dramatically increased the viability of the WB-12 transformant, suggesting that increased redox stress is involved in the pathogenesis of the disease and that anti-ROS therapy may be beneficial to patients.Vir: Human molecular genetics. - ISSN 0964-6906 (Letn. 14, št. 20, 2005, str. 3079-3088)Vrsta gradiva - članek, sestavni delLeto - 2005Jezik - angleškiCOBISS.SI-ID - 20435161
Avtor
Palmieri, Luigi |
Alberio, Simona |
Pisano, Isabella |
Lodi, Tiziana |
Meznarič, Marija |
Zidar, Janez |
Santoro, Antonella
Teme
Ophthalmoplegia, Chronic Progressive External |
Genetics |
Cardiomyopathy, Hypertrophic |
Acidosis, Lactic |
Dna, Mitochondrial |
Adenine Nucleotide Translocase |
Blotting, Southern |
Blotting, Western |
Muscles |
Pathology |
Biopsy |
Adenosine Triphosphate |
Homozygote |
Cell Survival |
Adult |
Acidoza laktična |
Adenin nukleotidna translokaza |
DNA mitohondrijska |
Kardiomiopatija hipertrofična |
Oftalmoplegija kronična, napredujoča, zunanja |
Adenozin trifosfat |
Biopsija |
Blot, Southern |
Blot, Western |
Celica, preživetje |
Homozigota |
Mišice |
Odrasli
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Palmieri, Luigi | ![]() |
Alberio, Simona | ![]() |
Pisano, Isabella | ![]() |
Lodi, Tiziana | ![]() |
Meznarič, Marija | 04905 |
Zidar, Janez | 08780 |
Santoro, Antonella | ![]() |
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