Mitochondrial dysfunction in a family with psychosis and chronic fatigue syndrome

作者：Torrell Helena; Alonso Yolanda; Garrabou Gloria; Mulet David; Catalan Marc; Valiente Palleja Alba; Carreno Gago Lidia; Garcia Arumi Elena; Montana Elena; Vilella Elisabet; Martorell Lourdes^*

来源：Mitochondrion, 2017, 34: 1-8.

DOI：10.1016/j.mito.2016.10.007

• Chronic fatigue syndrome
• Schizophrenia
• Mitochondrial DNA
• mtDNA
• Mitochondrial respiratory chain complexes
• mtDNA depletion

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.

• 出版日期2017-5