Usage of Mitochondrial D-Loop Variation to Predict Risk for Huntington Disease

Usage of Mitochondrial D-Loop Variation to Predict Risk for Huntington Disease Publisher Pubmed

Mousavizadeh K¹ ; Rajabi P^{1, 2} ; Alaee M^{1, 2} ; Dadgar S³ ; Houshmand M^{3, 4}

Show Affiliations

1. Department of Molecular Medicine, Iran University of Medical Sciences, Tehran, Iran
2. Department of Medical Biotechnology, Tehran University of Medical Sciences, Tehran, Iran
3. Department of Genetics, Special Medical Center, Tehran, Iran
4. Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran

Source: Mitochondrial DNA Published:2015

Abstract

Huntington's disease (HD) is an inherited autosomal neurodegenerative disease caused by the abnormal expansion of the CAG repeats in the Huntingtin (Htt) gene. It has been proven that mitochondrial dysfunction is contributed to the pathogenesis of Huntington's disease. The mitochondrial displacement loop (D-loop) is proven to accumulate mutations at a higher rate than other regions of mtDNA. Thus, we hypothesized that specific SNPs in the D-loop may contribute to the pathogenesis of Huntington's disease. In the present study, 30 patients with Huntington's disease and 463 healthy controls were evaluated for mitochondrial mutation sites within the D-loop region using PCR-sequencing method. Sequence analysis revealed 35 variations in HD group from Cambridge Mitochondrial Sequences. A significant difference (p < 0.05) was seen between patients and control group in eight SNPs. Polymorphisms at C16069T, T16126C, T16189C, T16519C and C16223T were correlated with an increased risk of HD while SNPs at C16150T, T16086C and T16195C were associated with a decreased risk of Huntington's disease. © 2014 Informa UK Ltd.

Style	Citing Format
MLA	Mousavizadeh K, et al.. "Usage of Mitochondrial D-Loop Variation to Predict Risk for Huntington Disease." Mitochondrial DNA, vol. 26, no. 4, 2015, pp. 579-582.
APA	Mousavizadeh K, Rajabi P, Alaee M, Dadgar S, Houshmand M (2015). Usage of Mitochondrial D-Loop Variation to Predict Risk for Huntington Disease. Mitochondrial DNA, 26(4), 579-582.
Chicago	Mousavizadeh K, Rajabi P, Alaee M, Dadgar S, Houshmand M. "Usage of Mitochondrial D-Loop Variation to Predict Risk for Huntington Disease." Mitochondrial DNA 26, no. 4 (2015): 579-582.
Harvard	Mousavizadeh K et al. (2015) 'Usage of Mitochondrial D-Loop Variation to Predict Risk for Huntington Disease', Mitochondrial DNA, 26(4), pp. 579-582.
Vancouver	Mousavizadeh K, Rajabi P, Alaee M, Dadgar S, Houshmand M. Usage of Mitochondrial D-Loop Variation to Predict Risk for Huntington Disease. Mitochondrial DNA. 2015;26(4):579-582.
BibTex	@article{ author = {Mousavizadeh K and Rajabi P and Alaee M and Dadgar S and Houshmand M}, title = {Usage of Mitochondrial D-Loop Variation to Predict Risk for Huntington Disease}, journal = {Mitochondrial DNA}, volume = {26}, number = {4}, pages = {579-582}, year = {2015} }
RIS	TY - JOUR AU - Mousavizadeh K AU - Rajabi P AU - Alaee M AU - Dadgar S AU - Houshmand M TI - Usage of Mitochondrial D-Loop Variation to Predict Risk for Huntington Disease JO - Mitochondrial DNA VL - 26 IS - 4 SP - 579 EP - 582 PY - 2015 ER -

Science Communicator Platform

Authors

Authors Affiliations

Abstract