{"database":"ENA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"center_name":["DZNE"],"full_dataset_link":["https://www.ebi.ac.uk/ena/browser/view/PRJNA869683"],"scientific_name":["Homo sapiens"],"long_description":["To address the question of whether mtDNA mutations might play a role in familiar ALS (fALS), mtDNA was isolated from whole blood (WB), white blood cells (WBC) and platelets (PLT) from fALS patients and the mitochondrial genome was analyzed using a mtDNA resequencing array (Affymetrix MitoChip v2.0) that allows detection of low-level heteroplasmy in addition to the conventional homoplasmic or heteroplasmic mutations. We distinguished between fALS cases with a prominent maternal (mat) inheritance pattern and fALS cases that do not point to a maternal inheritance pattern (non-mat). As additional controls we compared our results to healthy age and sex matched individuals without any known neurodegenerative background. With this we are aiming to get a deeper insight into a possible role of mtDNA alterations acting as a disease modifier in a subgroup of ALS patients presenting with a maternal transmission of the disease. Overall design: 184 MitoChips were performed in total. For each analysed group a n-number was included as follows (CTRL/ALS non-mat/ALS mant): whole blood (49/23/25), white blood cells (22/6/16), platelets (21/6/16). For the isolated cell types (PLT and WBC) freshly drawn EDTA blood was used to isolate the cell populations by differential centrifugation and cleaning up of the sample by magnetic bead separation. For whole blood samples one aliquot of frozen EDTA blood from the biobank was used."],"repository":["ENA"],"description_synonyms":["Lou Gehrig disease, Dalpha1, DmelCG5610, Gehrigs Disease, Sclerosis, Blood, Amyotrophic Lateral Sclerosis, IPOA, White Blood Corpuscle, motor neuron disease, bulbar, Thrombocytes, PBMC, Blood Corpuscle, Lou Gehrig's disease, LOU GEHRIGS DIS, alpha1, Gehrig Disease, portion of blood, ALS (Amyotrophic Lateral Sclerosis), Motor neuron disease, mitochondrial genome, Lou-Gehrigs, Acr96Aa, GEHRIGS DIS, Guam Form of Amyotrophic Lateral Sclerosis, alpha-like, Lateral Scleroses, Estimated, genetic, Amyotrophic lateral sclerosis, SOD, constitutitional genetic, Thrombocyte, Lou Gehrig Disease, homodimer, Bulbar motor neuron disease, Amyotrophic lateral sclerosis (disorder), Disease, Leukocyte, ALS, whole blood, PLATEST, Mitochondrial DNA, dALS, amyotrophic lateral sclerosis, vertebrate blood, White Blood Cells., Guam Form, CG5610-PA, familial, mKIAA4111, Blood Platelet, Parkinsonism/Dementia complex of Guam, Lou Gehrigs Disease, Lou Gehrig's Disease, ALs, als, Amyotrophic Lateral, Corpuscles, CG5610, ALS1, nAcRs, Blood Cells, Albs, Blood Cell, LOU GEHRIG DIS, mtDNA, Motor Neuron Disease, Acr96A, Peripheral Blood, Gehrig's Disease, Dementia With Amyotrophic Lateral Sclerosis, AcrB, Lou-Gehrigs Disease, hSod1, AMYOTROPHIC SCLEROSIS, ALS - Amyotrophic lateral sclerosis, nAChR, nAcr96Aa, White Blood Corpuscles, Amyotrophic, Reticuloendothelial System, Corpuscle, mitochondrial DNA, HEL-S-44, MOTOR NEURON DIS AMYOTROPHIC LATERAL SCLEROSIS, PBMCs, White Blood, Platelet, White, inherited genetic, Blood Corpuscles, Charcot disease, hereditary, Amyotrophic Lateral Sclerosis With Dementia, White Blood Cell, Platelets, Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1"],"name_synonyms":["Lou Gehrig disease, Dalpha1, DmelCG5610, Gehrigs Disease, Sclerosis, Blood, Amyotrophic Lateral Sclerosis, IPOA, White Blood Corpuscle, motor neuron disease, bulbar, Thrombocytes, PBMC, Blood Corpuscle, Lou Gehrig's disease, LOU GEHRIGS DIS, alpha1, Gehrig Disease, portion of blood, ALS (Amyotrophic Lateral Sclerosis), Motor neuron disease, mitochondrial genome, Lou-Gehrigs, Acr96Aa, GEHRIGS DIS, Guam Form of Amyotrophic Lateral Sclerosis, alpha-like, Lateral Scleroses, Estimated, genetic, Amyotrophic lateral sclerosis, SOD, constitutitional genetic, Thrombocyte, Lou Gehrig Disease, homodimer, Bulbar motor neuron disease, Amyotrophic lateral sclerosis (disorder), Disease, Leukocyte, ALS, whole blood, PLATEST, Mitochondrial DNA, dALS, amyotrophic lateral sclerosis, vertebrate blood, White Blood Cells., Guam Form, CG5610-PA, familial, mKIAA4111, Blood Platelet, Parkinsonism/Dementia complex of Guam, Lou Gehrigs Disease, Lou Gehrig's Disease, ALs, als, Amyotrophic Lateral, Corpuscles, CG5610, ALS1, nAcRs, Blood Cells, Albs, Blood Cell, LOU GEHRIG DIS, mtDNA, Motor Neuron Disease, Acr96A, Peripheral Blood, Gehrig's Disease, Dementia With Amyotrophic Lateral Sclerosis, AcrB, Lou-Gehrigs Disease, hSod1, AMYOTROPHIC SCLEROSIS, ALS - Amyotrophic lateral sclerosis, nAChR, nAcr96Aa, White Blood Corpuscles, Amyotrophic, Reticuloendothelial System, Corpuscle, mitochondrial DNA, HEL-S-44, MOTOR NEURON DIS AMYOTROPHIC LATERAL SCLEROSIS, PBMCs, White Blood, Platelet, White, inherited genetic, Blood Corpuscles, Charcot disease, hereditary, Amyotrophic Lateral Sclerosis With Dementia, White Blood Cell, Platelets, Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1"],"additional_accession":[]},"is_claimable":false,"name":"Mitochondrial DNA sequences of familial (maternal vs. non-maternal) ALS cases in whole blood, platelets and white blood cells","description":"Mitochondrial DNA sequences of familial (maternal vs. non-maternal) ALS cases in whole blood, platelets and white blood cells","dates":{"last_updated":"2025-09-24","first_public":"2023-07-29"},"accession":"PRJNA869683","cross_references":{"GEO":["GSE211250"],"taxon":["9606"]}}