Mitochondrial insertion-deletion polymorphism: role in disease pathology
| Autor: | Pragna Rao, Sambasivan Venkatasubramanian, Prabhakar K. Rao, Sreelatha Komandur, Ravindra Varma Alluri, Qurratulain Hasan |
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| Rok vydání: | 2011 |
| Předmět: |
Cardiomyopathy
Dilated Pathology medicine.medical_specialty Mitochondrial DNA Cardiomyopathy Disease Biology DNA Mitochondrial Electron Transport Complex IV Intergenic region medicine Insertion deletion Humans Spinocerebellar Ataxias Genetic Predisposition to Disease Gene Genetics (clinical) Repetitive Sequences Nucleic Acid Sequence Deletion Genetics Polymorphism Genetic Repeat sequence General Medicine medicine.disease Molecular biology Mitochondria Mutagenesis Insertional Case-Control Studies RNA Transfer Lys Repeat polymorphism Nervous System Diseases |
| Zdroj: | Genetic testing and molecular biomarkers. 15(5) |
| ISSN: | 1945-0257 |
| Popis: | Aim: Mitochondrial DNA (mtDNA) sequence variations are associated with a number of human diseases. The 9-bp repeat sequence, CCCCCTCTA, in the intergenic region of MTCO2 and MTTK genes of the mtDNA has been extensively used in phylogenic studies. The sequence has been reported to be polymorphic in south-east Asians in isolated cases of mt diseases. This is the first systemic study identifying the role of insertion–deletion polymorphism in human disease. Results: A total of 241 patients including those with cardiomyopathy, ataxias, and idiopathic neurological disorders along with 100 controls were screened; 2.9% of patients showed a single repeat (deletion) and 4.14% had three repeats (insertion), whereas all the controls had two repeats (normal). Conclusion: This indicates that the 9-bp insertion–deletion repeat polymorphism plays a role in disease pathology, affecting the expression of the downstream genes of mtDNA and altering ATP generation. |
| Databáze: | OpenAIRE |
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