title: Mitochondrial dysfunction in a family with psychosis and chronic fatigue syndrome.
abstract: Mitochondrial impairment is hypothesized to be involved in chronic fatigue syndrome (CFS) and schizophrenia. We performed a clinical, genetic and functional mitochondrial study in a family consisting of a female presenting schizophrenia in addition to CFS symptoms and her mother and older sister, both presenting with CFS. The three family members showed higher blood lactate levels, higher mitochondrial mass, lower mtDNA content and overall lower mitochondrial enzymatic activities and lower oxygen consumption capacities than healthy women. This family presented mtDNA depletion; however, no mutation was identified neither in the mtDNA nor in the nuclear genes related with mtDNA depletion, even though C16179A and T16519A variants should be further studied.
authors.affiliation: Centre for Omic Sciences, Centre Tecnòlogic de Nutrició i Salut, Universitat Rovira i Virgili, Reus, Catalonia, Spain.
authors.forename: Helena
authors.initials: H
authors.lastname: Torrell
authors.affiliation: Hospital Universitari Institut Pere Mata, IISPV, Universitat Rovira i Virgili, Biomedical Network Research Centre on Mental Health (CIBERSAM), Reus, Catalonia, Spain.
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Alonso
authors.affiliation: Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine-Universitat de Barcelona, Internal Medicine Service-Hospital Clínic de Barcelona, Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Catalonia, Spain.
authors.forename: Glòria
authors.initials: G
authors.lastname: Garrabou
authors.affiliation: Hospital Universitari Institut Pere Mata, IISPV, Universitat Rovira i Virgili, Biomedical Network Research Centre on Mental Health (CIBERSAM), Reus, Catalonia, Spain.
authors.forename: David
authors.initials: D
authors.lastname: Mulet
authors.affiliation: Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine-Universitat de Barcelona, Internal Medicine Service-Hospital Clínic de Barcelona, Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Catalonia, Spain.
authors.forename: Marc
authors.initials: M
authors.lastname: Catalán
authors.affiliation: Hospital Universitari Institut Pere Mata, IISPV, Universitat Rovira i Virgili, Biomedical Network Research Centre on Mental Health (CIBERSAM), Reus, Catalonia, Spain.
authors.forename: Alba
authors.initials: A
authors.lastname: Valiente-Pallejà
authors.affiliation: Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca, Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Catalonia, Spain.
authors.forename: Lidia
authors.initials: L
authors.lastname: Carreño-Gago
authors.affiliation: Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca, Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Catalonia, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: García-Arumí
authors.affiliation: Centre for Omic Sciences, Centre Tecnòlogic de Nutrició i Salut, Universitat Rovira i Virgili, Reus, Catalonia, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Montaña
authors.affiliation: Centre for Omic Sciences, Centre Tecnòlogic de Nutrició i Salut, Universitat Rovira i Virgili, Reus, Catalonia, Spain.
authors.forename: Elisabet
authors.initials: E
authors.lastname: Vilella
authors.affiliation: Hospital Universitari Institut Pere Mata, IISPV, Universitat Rovira i Virgili, Biomedical Network Research Centre on Mental Health (CIBERSAM), Reus, Catalonia, Spain. Electronic address: lourdes.martorell@urv.cat.
authors.forename: Lourdes
authors.initials: L
authors.lastname: Martorell
mesh_terms: D000328:Adult; D000368:Aged; D019069:Cell Respiration; D004272:DNA, Mitochondrial / Q000032:analysis; D004798:Enzymes / Q000032:analysis; D005192:Family Health; D015673:Fatigue Syndrome, Chronic / Q000150:complications* / Q000473:pathology*; D005260:Female; D006801:Humans; D019344:Lactic Acid / Q000097:blood; D008875:Middle Aged; D008928:Mitochondria / Q000201:enzymology / Q000473:pathology*; D010100:Oxygen / Q000378:metabolism; D011618:Psychotic Disorders / Q000150:complications* / Q000473:pathology*
chemical_list: D004272:DNA, Mitochondrial; D004798:Enzymes; D019344:Lactic Acid; D010100:Oxygen
keywords: Chronic fatigue syndrome; Mitochondrial DNA; Mitochondrial respiratory chain complexes; Schizophrenia; mtDNA; mtDNA depletion