Mitochondrial insertion-deletion polymorphism: Role in disease pathology

Sreelatha Komandur, Sambasivan Venkatasubramanian, Ravindra Varma Alluri, Pragna Rao, Prabhakar Rao, Qurratulain Hasan

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)361-364
Number of pages4
JournalGenetic Testing and Molecular Biomarkers
Issue number5
Publication statusPublished - 01-05-2011

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)


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