TY - JOUR
T1 - Mitochondrial insertion-deletion polymorphism
T2 - Role in disease pathology
AU - Komandur, Sreelatha
AU - Venkatasubramanian, Sambasivan
AU - Alluri, Ravindra Varma
AU - Rao, Pragna
AU - Rao, Prabhakar
AU - Hasan, Qurratulain
PY - 2011/5/1
Y1 - 2011/5/1
N2 - 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.
AB - 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.
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U2 - 10.1089/gtmb.2010.0205
DO - 10.1089/gtmb.2010.0205
M3 - Article
C2 - 21476899
AN - SCOPUS:79956116570
SN - 1945-0265
VL - 15
SP - 361
EP - 364
JO - Genetic Testing
JF - Genetic Testing
IS - 5
ER -
