caa a22 4500 463254317 CHVBK 20180405153350.0 cr unu---uuuuu 170326e20071101xx s 000 0 eng 10.1007/s10571-007-9206-5 doi (NATIONALLICENCE)springer-10.1007/s10571-007-9206-5 Huntington's Disease and Mitochondrial DNA Deletions: Event or Regular Mechanism for Mutant Huntingtin Protein and CAG Repeats Expansion?! [Elektronische Daten] [Mohammad Banoei, Massoud Houshmand, Mehdi Panahi, Parvin Shariati, Maryam Rostami, Masoumeh Manshadi, Tayebeh Majidizadeh] The mitochondrial DNA (mtDNA) may play an essential role in the pathogenesis of the respiratory chain complex activities in neurodegenerative disorders such as Huntington's disease (HD). Research studies were conducted to determine the possible levels of mitochondrial defect (deletion) in HD patients and consideration of interaction between the expanded Huntingtin gene as a nuclear gene and mitochondria as a cytoplasmic organelle. To determine mtDNA damage, we investigated deletions based in four areas of mitochondrial DNA, in a group of 60 Iranian patients clinically diagnosed with HD and 70 healthy controls. A total of 41 patients out of 60 had CAG expansion (group A). About 19 patients did not show expansion but had the clinical symptoms of HD (group B). MtDNA deletions were classified into four groups according to size; 9kb, 7.5kb, 7kb, and 5kb. We found one of the four-mtDNA deletions in at least 90% of samples. Multiple deletions have also been observed in 63% of HD patients. None of the normal control (group C) showed mtDNA deletions. The sizes or locations of the deletions did not show a clear correlation with expanded CAG repeat and age in our samples. The study presented evidence that HD patients had higher frequencies of mtDNA deletions in lymphocytes in comparison to the controls. It is thus proposed that CAG repeats instability and mutant Htt are causative factor in mtDNA damage. Springer Science+Business Media, LLC, 2007 mtDNA Deletion nationallicence CAG repeats instability nationallicence Mutant Huntingtin protein nationallicence Neurodegenerative Disease nationallicence Banoei Mohammad Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), P.O. Box 14155-6343, Tehran, Iran aut Houshmand Massoud Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), P.O. Box 14155-6343, Tehran, Iran aut Panahi Mehdi Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), P.O. Box 14155-6343, Tehran, Iran aut Shariati Parvin Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), P.O. Box 14155-6343, Tehran, Iran aut Rostami Maryam Molecular Genetic Lab, Special Medical Center, Tehran, Iran aut Manshadi Masoumeh Molecular Genetic Lab, Special Medical Center, Tehran, Iran aut Majidizadeh Tayebeh Molecular Genetic Lab, Special Medical Center, Tehran, Iran aut Cellular and Molecular Neurobiology Springer US; http://www.springer-ny.com 27/7(2007-11-01), 867-875 0272-4340 27:7<867 2007 27 10571 https://doi.org/10.1007/s10571-007-9206-5 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10571-007-9206-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Banoei Mohammad Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), P.O. Box 14155-6343, Tehran, Iran aut NATIONALLICENCE 700 1- Houshmand Massoud Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), P.O. Box 14155-6343, Tehran, Iran aut NATIONALLICENCE 700 1- Panahi Mehdi Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), P.O. Box 14155-6343, Tehran, Iran aut NATIONALLICENCE 700 1- Shariati Parvin Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), P.O. Box 14155-6343, Tehran, Iran aut NATIONALLICENCE 700 1- Rostami Maryam Molecular Genetic Lab, Special Medical Center, Tehran, Iran aut NATIONALLICENCE 700 1- Manshadi Masoumeh Molecular Genetic Lab, Special Medical Center, Tehran, Iran aut NATIONALLICENCE 700 1- Majidizadeh Tayebeh Molecular Genetic Lab, Special Medical Center, Tehran, Iran aut NATIONALLICENCE 773 0- Cellular and Molecular Neurobiology Springer US; http://www.springer-ny.com 27/7(2007-11-01), 867-875 0272-4340 27:7<867 2007 27 10571 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer