Maternally Inherited Cardiomyopathy: An Atypical Presentation of the mtDNA 12S rRNA Gene A1555G Mutation
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چکیده
منابع مشابه
Mutant A1555G Mitochondrial 12S rRNA and Aminoglycoside Susceptibility
In a recent report published in this journal, Y. Qian and M.-X. Guan reported on their studies on interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the A1555G deafness-associated mutation (15). Using RNA oligonucleotides representing the small subunit’s rRNA decoding A site (i.e., the drug binding pocket) and carrying the A1555G mutation, the authors used chemical footpr...
متن کاملMutant A1555G mitochondrial 12S rRNA and aminoglycoside susceptibility.
In a recent report published in this journal, Y. Qian and M.-X. Guan reported on their studies on interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the A1555G deafness-associated mutation (15). Using RNA oligonucleotides representing the small subunit’s rRNA decoding A site (i.e., the drug binding pocket) and carrying the A1555G mutation, the authors used chemical footpr...
متن کاملMitochondrial Stress Engages E2F1 Apoptotic Signaling to Cause Deafness
Mitochondrial dysfunction causes poorly understood tissue-specific pathology stemming from primary defects in respiration, coupled with altered reactive oxygen species (ROS), metabolic signaling, and apoptosis. The A1555G mtDNA mutation that causes maternally inherited deafness disrupts mitochondrial ribosome function, in part, via increased methylation of the mitochondrial 12S rRNA by the meth...
متن کاملPrevalence of the A1555G (12S rRNA) and tRNASer(UCN) mitochondrial mutations in hearing-impaired Brazilian patients.
Mitochondrial mutations are responsible for at least 1% of the cases of hereditary deafness, but the contribution of each mutation has not yet been defined in African-derived or native American genetic backgrounds. A total of 203 unselected hearing-impaired patients were screened for the presence of the mitochondrial mutation A1555G in the 12S rRNA gene and mutations in the tRNASer(UCN) gene in...
متن کاملIdentification of a mitochondrial 12S rRNA A1555G mutation causing aminoglycoside-induced deafness in a large Thai family
Pongsathorn Chaiyasap, Chalurmpon Srichomthong, Siraprapa Tongkobpetch, Kanya Suphapeetiporn, Vorasuk Shotelersuk Interdepartment of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, Bangkok 10330, Thailand Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand Excellence Center for Med...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 1999
ISSN: 0002-9297
DOI: 10.1086/302188