http://www.sciencedirect.com/science/article/pii/S1567724916302215
Mitochondrion
Available online 28 October 2016
In Press, Accepted Manuscript — Note to users
Mitochondrial dysfunction in a family with psychosis and chronic fatigue syndrome
- Helena Torrella, 1,
- Yolanda Alonsob,
- Glòria Garrabouc,
- David Muletb,
- Marc Catalánc,
- Alba Valiente-Pallejàb,
- Lidia Carreño-Gagod,
- Elena García-Arumíd,
- Elena Montañaa,
- Elisabet Vilellaa,
- Lourdes Martorellb, , 1,
http://dx.doi.org/10.1016/j.mito.2016.10.007
Highlights
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Mitochondrial dysfunction is associated with chronic fatigue symptoms (72 characters)
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Lactate stress test as an assay to identify mitochondrial impairment in CFS (78 characters)
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Further studies are needed to know if C16179A and T16519A alter mtDNA function (81 characters)
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.
Abbreviations
Keywords
- ATP, adenosine triphosphate;
- C10orf2, chromosome 10 open reading frame 2;
- CI, mitochondrial complex one;
- CII, mitochondrial complex two;
- CIII, mitochondrial complex three;
- CIV, mitochondrial complex four;
- cDNA, complementary deoxyribonucleic acid;
- Cellox, global endogenous substrate consumption;
- CFS, chronic fatigue syndrome;
- CPK, creatine phosphokinase;
- CS, citrate synthase;
- DGUOK, deoxyguanosine kinase;
- DNA, deoxyribonucleic acid;
- DSM-IV, Diagnostic and Statistical Manual of Mental Disorders, 4th Edition;
- EDTA, ethylenediaminetetraacetic acid;
- G3Pox, glyceraldehyde 3-phosphate oxidation;
- GMox, glutamate malate oxidation;
- GUSB, glucuronidase beta;
- HPRT1, hypoxanthine phosphoribosyltransferase 1;
- IPAQ, International Physical Activity Questionnaire;
- MPV17, MpV17 mitochondrial inner membrane protein;
- MRC, mitochondrial respiratory chain;
- MRI, magnetic resonance imaging;
- mtDNA, mitochondrial DNA;
- MT-ND1, mitochondrially encoded NADH dehydrogenase 1;
- MT-ND4, mitochondrially encoded NADH dehydrogenase 4;
- nDNA, nuclear DNA;
- PBMCs, peripheral blood mononuclear cells;
- PGM, personal genome machine;
- PMox, pyruvate malate oxidation;
- POLG, polymerase (DNA directed), gamma;
- qPCR, quantitative polymerase chain reaction;
- RNA, ribonucleic acid;
- RNAse P, ribonuclease P;
- RPPH1, ribonuclease P RNA component H1;
- RRM2B, ribonucleotide reductase M2 B;
- SCAN, Schedules for Clinical Assessment in Neuropsychiatry;
- SD, standard deviation;
- SEM, standard error of the mean;
- Sox, succinate oxidation;
- SPECT, single-photon emission computed tomography;
- TK2, thymidine kinase 2, mitochondrial;
- YWHAZ, tyrosine 3-monooxygenase
- Chronic fatigue syndrome;
- Schizophrenia;
- Mitochondrial DNA;
- mtDNA;
- Mitochondrial respiratory chain complexes;
- mtDNA depletion
http://www.sciencedirect.com/science/article/pii/S1567724916302215