T15465G MUTATION, ALTERED METHIONINE TO TERMINATION CODON OF THE MTDNA CYT B GENE, WAS FOUND IN A MAN WITH MYOPATHY
The mitochondrial myopathies are neuromuscular diseases that can be associated with mitochondrial DNA mutations. A 27-year-old man of four members in the family has been demonstrated positively detected to myopathy, whereas the molecular studies underlying this disorder are still unknown. Mitochondr...
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| Format: | Theses |
| Language: | Indonesia |
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| Online Access: | https://digilib.itb.ac.id/gdl/view/35880 |
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| Institution: | Institut Teknologi Bandung |
| Language: | Indonesia |
| Summary: | The mitochondrial myopathies are neuromuscular diseases that can be associated with mitochondrial DNA mutations. A 27-year-old man of four members in the family has been demonstrated positively detected to myopathy, whereas the molecular studies underlying this disorder are still unknown. Mitochondrial DNA samples were obtained from their blood and were amplified by Polimerase Chain Reaction (PCR) technique using DL/DH and IL/IH primer pairs. Sequence determination of 1,9 kb and 2 kb fragments of PCR product is carried out using Dideoxy Sanger method with additional two primers. The total number of nucleotides analyzed in this research was 10288 bp. Homology analysis of nucleotide sequence data compared to Cambridge Reference Sequence (CRS) showed eleven point mutations in the man with myopathy. Two of the mutation were found in COI gene and the others in Cyt b gene. Five mutations causing amino acid replacement were found in Cyt b gene, and one mutation T15465G leads to an alteration of methionine codon to termination codon AGG. The last mutation was strongly suggested as a cause to myopathy due to terminated translation of apocytochrome b complex III occurred. However, there’s a possibility for other mutations causing amino acid replacement also related to mitochondrial myopathy. |
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