Gene Symbol: ND1
Description: NADH dehydrogenase subunit 1
Species: homo sapiens neanderthalensis
- A complete Neandertal mitochondrial genome sequence determined by high-throughput sequencingRichard E Green
Max Planck Institute for Evolutionary Anthropology, D 04103 Leipzig, Germany
Cell 134:416-26. 2008..There is evidence that purifying selection in the Neandertal mtDNA was reduced compared with other primate lineages, suggesting that the effective population size of Neandertals was small...
- Mitochondrial and nuclear gene mutations in the type 2 diabetes patients of Coimbatore populationViswanadha Vijaya Padma
Department of Biotechnology, School of Biotechnology and Genetic Engineering, Bharathiar University, Coimbatore, Tamil Nadu, India
Mol Cell Biochem 345:223-9. 2010..Our results suggest that the T8356C and GLUT1 gene mutations may have an important role in developing late-onset T2D in Coimbatore population. Particularly, individuals with GLUT1 gene may develop kidney dysfunction at their later age...
- Nucleotide variations in mitochondrial DNA and supra-physiological ROS levels in cytogenetically normal cases of premature ovarian insufficiencyManoj Kumar
Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India
Arch Gynecol Obstet 282:695-705. 2010....
- Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCRRui Bi
Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China
Clin Chim Acta 411:1671-4. 2010..Thus, screening the three LHON primary mutations in general populations is important for genetic counseling...
- Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohortAnita Lakatos
Department of Psychiatry and Human Behavior, University of California, Irvine, CA 92617, USA
Neurobiol Aging 31:1355-63. 2010..Our results indicate that the mitochondrial haplogroup UK may confer genetic susceptibility to AD independently of the apolipoprotein E4 (APOE4) allele...
- Genotyping mitochondrial DNA single nucleotide polymorphisms by PCR ligase detection reactionsYongjun Luo
Department of Pathophysiology and High Altitude Physiology, Third Military Medical University, Chongqing, PR China
Clin Chem Lab Med 48:475-83. 2010..In addition, it has been successfully employed to detect point mutations in various nuclear genes. In this study, we used the PCR-LDR platform to characterize mtDNA SNPs...
- Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing lossTomofumi Kato
Department of Otolaryngology, Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Itabashi, Tokyo, Japan
J Hum Genet 55:147-54. 2010..11778G>A in the MT-ND4 gene and 15498G>A in the MT-CYB gene were detected in one patient for each. This screening system is useful for the genetic diagnosis and epidemiological study of both syndromic and non-syndromic HL...
- [The relationship between copy number and microsatellite instability of mitochondrial DNA in colorectal cancer]Ping Huang
Department of Gastroenterology, the 305 Hospital of PLA, Beijing 100017, China
Zhonghua Nei Ke Za Zhi 48:837-40. 2009..To study the relationship between the abnormality of mitochondrial DNA (mtDNA) copy number and the clinical parameters and microsatellite instability (MSI) in colorectal cancer...
- Extensive screening system using suspension array technology to detect mitochondrial DNA point mutationsYutaka Nishigaki
Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, 35 2 Sakae cho, Itabashi ku, Tokyo 173 0015, Japan
Mitochondrion 10:300-8. 2010..or homoplasmic point mutations (29 for Series A and 32 for Series B) in 22 genes: 1 each in MT-RNR1, -TV, -ND1, -TQ, -TW, -TC, and -TH genes; 2 each in MT-TN, -TG, -ND4, -TL2, -TE, and -CYB genes; 3 each in MT-ATP6, -ND3, and -..
- Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutationYi Tong
School of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical College, Wenzhou, Zhejiang, China
Mol Genet Metab 99:417-24. 2010..8 years old. Molecular analysis of mitochondrial genomes identified the homoplasmic ND1 G3460A mutation and distinct sets of variants, belonging to the Asian haplogroups B5b, C4a1, D5, F1, and R9, ..
- Involvement of mitochondrial DNA sequence variations and respiratory activity in late complications following radiotherapyGhazi A Alsbeih
Biomedical Physics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Clin Cancer Res 15:7352-60. 2009....
- Somatic mutations in mitochondrial genome and their potential roles in the progression of human gastric cancerWen Yi Hung
Department and Institute of Pharmacology, School of Medicine, National Yang Ming University, Taipei, Taiwan 112, ROC
Biochim Biophys Acta 1800:264-70. 2010..In our previous study, high frequency of somatic mutations was found in the D-loop region of mtDNA of gastric cancers. However, it is unclear whether somatic mutations occur in the coding region of mtDNA of gastric cancers...
- Gene-environment interactions in Leber hereditary optic neuropathyMatthew Anthony Kirkman
Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, UK
Brain 132:2317-26. 2009..Based on these findings, asymptomatic carriers of a LHON mtDNA mutation should be strongly advised not to smoke and to moderate their alcohol intake...
- Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutationJuhua Yang
Biomedical Engineering Center, Fujian Medical University, Fuzhou, Fujian, China
Biochem Biophys Res Commun 386:50-4. 2009..Mitochondrial genome sequence analysis revealed the presence of a homoplasmic ND1 G3635A mutation in both families...
- Association of mitochondrial allele 4216C with increased risk for sepsis-related organ dysfunction and shock after burn injuryRyan M Huebinger
Department of Surgery, University of Texas Southwestern Medical Center at Dallas, Texas, USA
Shock 33:19-23. 2010..a nonsynonymous mitochondrial polymorphism (T4216C) in the nicotinamide adenine dinucleotide dehydrogenase 1 gene (ND1), encoding a key member of complex I within the electron transport chain, which is found almost exclusively among ..
- Accumulation of mitochondrial genome variations in Persian LQTS patients: a possible risk factor?Mehri Khatami
Department of Genetics, Science School, Tarbiat Modares University TMU, Tehran, Iran
Cardiovasc Pathol 19:e21-7. 2010..It prompted us to focus on the mitochondrial DNA and monitor the point mutations of genome which are probably the cause of respiratory chain defects and reduced ATP generation...
- Do mitochondrial mutations cause recurrent miscarriage?Milja Kaare
Folkhalsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Mol Hum Reprod 15:295-300. 2009..In addition, none of the detected variations were previously known to be pathogenic and therefore they are an unlikely cause of miscarriage...
- Association of mitochondrial allele 4216C with increased risk for complicated sepsis and death after traumatic injuryRuben Gomez
Department of Surgery, University of Texas Southwestern Medical Center at Dallas, Texas 75390 9160, USA
J Trauma 66:850-7; discussion 857-8. 2009..These DNA variants include a nonsynonymous polymorphism (T4216C) in the NADH dehydrogenase 1 gene (ND1), which encodes a key member of Complex I of the electron transport chain...
- Reduced frequency of known mutations in a cohort of LHON patients from IndiaPeriasamy Sundaresan
Department of Genetics, Dr G Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Madurai, Tamilnadu, India
Ophthalmic Genet 31:196-9. 2010..The purpose of the study was to investigate the frequency of these mitochondrial DNA mutations in LHON patients from a South Indian population...