{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["Illumina HiSeq 2500;"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001002188"],"sample_count":["105"],"description":["EGA dataset EGAD00001002188"],"repository":["EGA"],"title":["mtWGDS data MS discordant twins"],"pubmed_abstract":["We examined the debated link between mitochondrial DNA (mtDNA) variation and multiple sclerosis (MS) using 49 monozygotic (MZ) twin pairs clinically discordant for MS, which enables to associate de novo mtDNA variants, skewed heteroplasmy, and mtDNA copy number with MS manifestation. Ultra-deep sequencing of blood-derived mtDNA revealed 25 heteroplasmic variants with potentially pathogenic features in 18 pairs. All variants were pair-specific and had low and/or similar heteroplasmy levels in both cotwins. In one pair, a confirmed pathogenic variant (m.11778G>A, heteroplasmy ∼50%) associated with Leber hereditary optic neuropathy was detected. Detailed diagnostic investigation revealed subclinical MS signs in the prior nondiseased cotwin. Moreover, neither mtDNA deletions nor copy-number variations were involved. Furthermore, the majority of heteroplasmic variants were shared among MZ twins and exhibited more similar heteroplasmy levels in the same tissue of MZ twins as compared with different tissues of the same individual. Heteroplasmy levels were also more similar within MZ twins compared with nonidentical siblings. Our analysis excludes mtDNA variation as a major driver of the discordant clinical manifestation of MS in MZ twins, and provides valuable insights into the occurrence and distribution of heteroplasmic variants within MZ twins and nonidentical siblings, and across different tissues."],"pubmed_title":["Mitochondrial DNA Variation and Heteroplasmy in Monozygotic Twins Clinically Discordant for Multiple Sclerosis."],"pubmed_authors":["Souren Nicole Y P NY, Gerdes Lisa A LA, Kümpfel Tania T, Lutsik Pavlo P, Klopstock Thomas T, Hohlfeld Reinhard R, Walter Jörn J"],"name_synonyms":["Vasp, VASP, Data Set., DmelCG15112, ENHANCER OF ATNSI ACTIVITY, MENA, NDPP1, l(2)02029, Enb, enb, ENA, Ena, CG15112, ENA/VASP"],"pubmed_abstract_synonyms":["\"multiple sclerosis\" EXACT [NCI2004_11_17:C3243], Cognitive Function, High Throughput DNA Sequencing, Leber, Optic Neuroretinopathy, Nucleotide Sequencing, determination, Neuropathy, Massively-Parallel, Feature, supply, Sclerosis, Multiple Sclerosis, DmelCG31137, number, High-Throughput DNA, Optic Atrophy, CG31137, presence, Illumina, Next-Generation Sequencing, CG17741, Leber’s disease, Hereditary Optic, \"Multiple sclerosis\" EXACT [SNOMEDCT_2005_07_31:155023009], High-Throughput RNA Sequencing, Hereditary Optic Neuroretinopathies, Deep, Lebers Disease, Leber Hereditary Optic Neuropathy, Lebers Optic Neuropathy, Twin, optic atrophy, symptoms, CG5534, Heteroplasmic Variation, Low, Massively Parallel Sequencing, \"Multiple sclerosis\" EXACT [ICD9CM_2006:340], Deep Sequencing, portion of blood, \"Multiple sclerosis (disorder)\" EXACT [SNOMEDCT_2005_07_31:24700007], \"Multiple sclerosis NOS (disorder)\" EXACT [SNOMEDCT_2005_07_31:192930001], study, portion of tissue, Brothers, me75, Leber's, Heteroplasmic Variations, Ion Proton Sequencing, mitochondrial genome, twn, occurrence, ccr4, Illumina Sequencing, distribution, Neuroretinopathy, Tissue, prevalence, Pyrosequencing, CT39331, D17Mit170, Sequencing, T1, Neuroretinopathies, Cognitive Functions, Cognitions, generalised multiple sclerosis, High Throughput RNA Sequencing, Leber Hereditary Optic Atrophy, Functions, Leber Disease, Leber's Hereditary Optic Neuropathy, High-Throughput, RNA Sequencing, Characteristics, generalized multiple sclerosis, Leber's Optic Atrophy, LHON, Leber's Optic Neuropathy, incidence, Macroheteroplasmy, High-Throughput RNA, screening, Disseminated Sclerosis, Disease, findings, cou, whole blood, Mitochondrial DNA, Tissue., vertebrate blood, frequency, Leber's Optic, High-Throughput DNA Sequencing, Leber type, Brother, MS (Multiple Sclerosis), Leber's Disease, Insight, Tl3, Tl2, Ccr4, CCR4, Insights, count in organism, MS, Ion Torrent Sequencing, Lr, Leber's Hereditary Optic Atrophy, Characteristic, DNA Sequencing, Massively-Parallel Sequencing, Leber Type, chemical analysis, Diseases, Next-Generation, tissue portion, \"Generalized multiple sclerosis (disorder)\" EXACT [SNOMEDCT_2005_07_31:192928003], Leber Optic Neuropathy, simple tissue, Ion Torrent, Optic Neuropathy, supply and distribution, Hereditary Optic Neuroretinopathy, outbreaks, Next Generation Sequencing, Leber Optic Atrophy, mtDNA, Heteroplasmic Mutations, Sibling, Function, Leber Optic Atrophy and Dystonia, signs, \"insular sclerosis\" EXACT [CSP2005:2042-2324], Features, Cognitive, Disseminated, Leber's Diseases, Sister, surveillance, morbidity, endemics, Acute Fulminating, High Throughput Sequencing, Multiple, Homoplasmy, mitochondrial DNA, High-Throughput Sequencing, Hereditary, cardinality, Bra, High Throughput Nucleotide Sequencing, Sisters, epidemics, Optic Neuroretinopathies, assay, Microheteroplasmy, Ion Proton, Heteroplasmic Mutation, BEST:GH20274, High-Throughput Nucleotide"],"description_synonyms":["BamF, bim, biml, Edg, BamC, determination, HCAP, bim-beta6, bam, chemical analysis., ham, BOD, alpha, whole genome, CDLS3, BMH, fs(3)neo61, CG10422, BIM, Bam-C, BAM, Bam, SMC3L1, bim-beta7, assay, bod, DmelCG10422, ORW1, CSPG6, END, bimel, HHT1"],"pubmed_title_synonyms":["\"Multiple sclerosis (disorder)\" EXACT [SNOMEDCT_2005_07_31:24700007], \"multiple sclerosis\" EXACT [NCI2004_11_17:C3243], Identical, \"Multiple sclerosis NOS (disorder)\" EXACT [SNOMEDCT_2005_07_31:192930001], Disseminated Sclerosis, Monochorionic Diamniotic Twins, mtDNA, Heteroplasmic Variations, Heteroplasmic Mutations, mitochondrial genome, Monozygotic Twins, Monochorionic Diamniotic, Mitochondrial DNA, Sclerosis, Multiple Sclerosis, Identical Twin, \"insular sclerosis\" EXACT [CSP2005:2042-2324], Diamniotic Twin, Monochorionic Monoamniotic Twin, MS (Multiple Sclerosis), Monozygotic, Disseminated, Acute Fulminating, Monochorionic, Multiple, Homoplasmy, mitochondrial DNA, MS, \"Multiple sclerosis\" EXACT [SNOMEDCT_2005_07_31:155023009], generalised multiple sclerosis, Monoamniotic Twin, Monozygotic Twin, Twin, \"Generalized multiple sclerosis (disorder)\" EXACT [SNOMEDCT_2005_07_31:192928003], Heteroplasmic Variation, Microheteroplasmy, Identical Twins, Monochorionic Diamniotic Twin, generalized multiple sclerosis, Heteroplasmic Mutation, \"Multiple sclerosis\" EXACT [ICD9CM_2006:340]., Monochorionic Monoamniotic, Twins, Macroheteroplasmy, Monochorionic Monoamniotic Twins"],"additional_accession":[]},"is_claimable":false,"name":"ena-DATASET-UDS-13-06-2016-13:10:35:105-263 - samples","description":"Paired-end BAM files of mitochondrial whole genome deep sequencing (mtWGDS) analysis","dates":{"updated":"2017-07-26 15:39:27"},"accession":"EGAD00001002188","cross_references":{"TAXONOMY":["9606"],"pubmed":["27119776"],"EGA":["EGAC00001000331","EGAS00001001240"]}}