Gene Symbol: ND4L
Description: NADH dehydrogenase subunit 4L
Green R, Malaspinas A, Krause J, Briggs A, Johnson P, Uhler C, et al
. A complete Neandertal mitochondrial genome sequence determined by high-throughput sequencing. Cell. 2008;134:416-26 pubmed publisher
..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...
Behbehani R, Melhem M, Alghanim G, Behbehani K, Alsmadi O. ND4L gene concurrent 10609T>C and 10663T>C mutations are associated with Leber's hereditary optic neuropathy in a large pedigree from Kuwait. Br J Ophthalmol. 2014;98:826-31 pubmed publisher
..This is the first report of the presence of two concurrent mutations in the ND4L gene in individuals with LHON who carry the L3 haplogroup.
Rollins B, Martin M, Sequeira P, Moon E, Morgan L, Watson S, et al
. Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorder. PLoS ONE. 2009;4:e4913 pubmed publisher
..Focusing on haplogroup and individual susceptibility factors in psychiatric disorders by considering mtDNA variants may lead to innovative treatments to improve mitochondrial health and brain function...
Alsbeih G, Al Harbi N, El Sebaie M, Al Rajhi N, Al Hadyan K, Abu Amero K. Involvement of mitochondrial DNA sequence variations and respiratory activity in late complications following radiotherapy. Clin Cancer Res. 2009;15:7352-60 pubmed publisher
..Predictive markers of radiosensitivity should take into account mtDNA genetic variations in addition to variations in nuclear genes...
Lakatos A, Derbeneva O, Younes D, Keator D, Bakken T, Lvova M, et al
. Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohort. Neurobiol Aging. 2010;31:1355-63 pubmed publisher
..Our results indicate that the mitochondrial haplogroup UK may confer genetic susceptibility to AD independently of the apolipoprotein E4 (APOE4) allele...
Kumar M, Pathak D, Kriplani A, Ammini A, Talwar P, Dada R. Nucleotide variations in mitochondrial DNA and supra-physiological ROS levels in cytogenetically normal cases of premature ovarian insufficiency. Arch Gynecol Obstet. 2010;282:695-705 pubmed publisher