Where is mitochondrial genome located

Mitochondrial DNA haplogroups associated with age-related macular degeneration. Invest Ophthalmol Vis Sci. Epigenetics, epidemiology and mitochondrial DNA diseases.

Int J Epidemiol. Ghezzi D, Zeviani M. Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology. Adv Exp Med Biol. A human mitochondrial genome database. Mitochondrial threshold effects.

A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. What causes mitochondrial DNA deletions in human cells? Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. Gene-environment interactions in Leber hereditary optic neuropathy. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Leber's hereditary optic neuroretinopathy and the X-chromosomal susceptability factor: no linkage to DXS7. Hum Hered. Prelimanary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis.

Genome-wide expression profile of LHON patients with the mutation. Br J Ophthalmol. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.

Mitochondrial tRNA mutations: clinical and functional perturbations. RNA Biol. Trends Genet. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Melas: an original case and clinical criteria for diagnosis. Neuromuscul Disord. Biochem Biophys Res Commun. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Human mitochondrial DNA deletios associated with mutations in the gene encoding Twinkle, a phage T7 gene4-like protein localized in mitochondria. Wolf A, Cowen D. The cerebral atrophies and encephalomalacias of infancy and childhood.

POLG1 mutations associated with progressive encephalopathy in childhood. J Neuropathol Exp Neurol. Clayton DA. Replication of animal mitochondrial DNA. Spinazzola A, Zeviani M. Disorders of nuclear-mitochondrial intergenomic communication. Biosci Rep. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat. A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency.

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the kD AQDQ subunit. Smeitink J, van den Heuvel L. Human mitochondrial complex I in health and disease. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.

Eur J Hum Genet. Shoubridge EA. Nuclear genetic defects of oxidative phosphorylation. Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. C6ORF66 is an assembly factor of mitochondrial complex I. Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. Baysal BE.

Hereditary paraganglioma targets diverse paraganglia. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp Br J Dermatol.

Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP Antenatal mitochondrial disease caused by mitochondrial ribosomal protein MRPS22 mutation. Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. J Child Neurol.

A human dynamin-related protein controls the distribution of mitochondria. J Cell Biol. A lethal defect of mitochondrial and peroxisomal fission. A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes. The implications of mitochondrial DNA copy number regulation during embryogenesis. Mitochondrial DNA mutations in human disease.

Am J Med Genet. Performance comparison of exome DNA sequencing technologies. Nat Biotechnol. A mitochondrial protein compendium elucidates complex I disease biology. MitoP2: the mitochondrial proteome database—now including mouse data. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet. Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.

An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.

Identification of a mutation in LARS as a novel cause of infantile hepatopathy. Mol Genet Metab. Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. Titin mutation segregates with hereditary myopathy with early respiratory failure. The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

Segregation of mtDNA throughout human embryofetal development: m. Treatment for mitochondrial disorders. Cochrane Database Syst Rev. A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy.

Progress and prospects: gene therapy for mitochondrial DNA disease. Gene Ther. Assembly of functional proton-translocating ATPase complex in yeast mitochondria with cytoplasmically synthesized subunit 8, a polypeptide normally encoded within the organelle. Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits.

Rejuvenation Res. Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy MNGIE : a consensus conference proposal for a standardized approach. Bone Marrow Transplant.

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring. Hum Reprod Update. Healthy baby girl born following pre-implantation Genetic diagnosis for mitochondrial DNA m. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease.

Towards germline gene therapy of inherited mitochondrial diseases. The human mitochondrial genome consists of a DNA ring of about 16, nucleotides. It contains 37 genes, most of which are coding for mitochondrial tRNAs. The remaining genes play important roles in oxydative phosporylation. Mutations in mitochondrial genes have been identified are the causes for a variety of diseases and, potentially, aging. The mitochondrial genome has essentially bacterial features.

You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer. In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript. The DNA of eukaryotic organisms such as animals, plants and fungi is stored in two cellular compartments: in the nucleus and in organelles called mitochondria, which transform nutrients into energy to allow the cell to function.

By contrast, mitochondrial DNA mtDNA was thought to derive exclusively from maternal egg cells, with no paternal contribution 1. Hutchison, C. III, Newbold, J. Nature , — PubMed Article Google Scholar. Luo, S. Natl Acad. USA , — Hecht, N. Sager, R. USA 69 , — Nishimura, Y.

Holt, I. Article Google Scholar. Gorman, G. Nature Rev. Primers 2 , Hauswirth, W.