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 journalArticle

9 Citations (Scopus)

Abstract

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
Volume15
Issue number5
DOIs
Publication statusPublished - 01-05-2011

Fingerprint

Mitochondrial DNA
Pathology
Intergenic DNA
Ataxia
Nervous System Diseases
Cardiomyopathies
Adenosine Triphosphate
Gene Expression
Genes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Komandur, S., Venkatasubramanian, S., Alluri, R. V., Rao, P., Rao, P., & Hasan, Q. (2011). Mitochondrial insertion-deletion polymorphism: Role in disease pathology. Genetic Testing and Molecular Biomarkers, 15(5), 361-364. https://doi.org/10.1089/gtmb.2010.0205
Komandur, Sreelatha ; Venkatasubramanian, Sambasivan ; Alluri, Ravindra Varma ; Rao, Pragna ; Rao, Prabhakar ; Hasan, Qurratulain. / Mitochondrial insertion-deletion polymorphism : Role in disease pathology. In: Genetic Testing and Molecular Biomarkers. 2011 ; Vol. 15, No. 5. pp. 361-364.
@article{a1a08402630a4400949be8f4c9e9dab6,
title = "Mitochondrial insertion-deletion polymorphism: Role in disease pathology",
abstract = "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.",
author = "Sreelatha Komandur and Sambasivan Venkatasubramanian and Alluri, {Ravindra Varma} and Pragna Rao and Prabhakar Rao and Qurratulain Hasan",
year = "2011",
month = "5",
day = "1",
doi = "10.1089/gtmb.2010.0205",
language = "English",
volume = "15",
pages = "361--364",
journal = "Genetic Testing and Molecular Biomarkers",
issn = "1945-0265",
publisher = "Mary Ann Liebert Inc.",
number = "5",

}

Komandur, S, Venkatasubramanian, S, Alluri, RV, Rao, P, Rao, P & Hasan, Q 2011, 'Mitochondrial insertion-deletion polymorphism: Role in disease pathology', Genetic Testing and Molecular Biomarkers, vol. 15, no. 5, pp. 361-364. https://doi.org/10.1089/gtmb.2010.0205

Mitochondrial insertion-deletion polymorphism : Role in disease pathology. / Komandur, Sreelatha; Venkatasubramanian, Sambasivan; Alluri, Ravindra Varma; Rao, Pragna; Rao, Prabhakar; Hasan, Qurratulain.

In: Genetic Testing and Molecular Biomarkers, Vol. 15, No. 5, 01.05.2011, p. 361-364.

Research output: Contribution to journalArticle

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.

UR - http://www.scopus.com/inward/record.url?scp=79956116570&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79956116570&partnerID=8YFLogxK

U2 - 10.1089/gtmb.2010.0205

DO - 10.1089/gtmb.2010.0205

M3 - Article

C2 - 21476899

AN - SCOPUS:79956116570

VL - 15

SP - 361

EP - 364

JO - Genetic Testing and Molecular Biomarkers

JF - Genetic Testing and Molecular Biomarkers

SN - 1945-0265

IS - 5

ER -