Abstract
Mitochondria are essential for early cardiac development and impaired regulation of mitochondrial function was implicated in congenital heart diseases. We described a newborn girl with hypertrophic cardiomyopathy and profound hearing loss. The mtDNA mutational analysis revealed the presence of known polymorphisms associated to cardiomyopathy and/or hearing loss, and 2 novel heteroplasmic mutations: m.3395A>G (Y30C) occurring in a highly conserved aminoacid of the ND1 gene and the m.4316A>G located in the residue A54 of the tRNA(Ile) gene. These 2 novel variations were absent in 150 controls. All these variants may act synergistically and exert a cumulative negative effect on heart function to generate the cardiomyopathy.
Original language | English |
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Pages (from-to) | 504-10 |
Number of pages | 7 |
Journal | Biochemical and Biophysical Research Communications |
Volume | 404 |
Issue number | 1 |
DOIs | |
Publication status | Published - 2011 Jan 7 |
Externally published | Yes |
Free keywords
- Amino Acid Sequence
- Cardiomyopathy, Hypertrophic
- DNA Mutational Analysis
- DNA, Mitochondrial
- Female
- Hearing Loss, Sensorineural
- Humans
- Infant
- Mitochondria
- Molecular Sequence Data
- Mutation
- Mutation, Missense
- NADH Dehydrogenase
- Polymorphism, Genetic
- Protein Structure, Secondary
- RNA, Transfer, Ile