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Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein-Barr Virus.
Tang-Siegel, Gaoyan G; Maughan, David W; Frownfelter, Milah B; Light, Alan R.
Afiliación
  • Tang-Siegel GG; Department of Molecular Physiology and Biophysics, College of Medicine, University of Vermont, Burlington, VT, USA.
  • Maughan DW; Department of Molecular Physiology and Biophysics, College of Medicine, University of Vermont, Burlington, VT, USA.
  • Frownfelter MB; Seattle Medical Associates, 1124 Columbia St. Suite 620, Seattle, WA, USA.
  • Light AR; Department of Anesthesiology, University of Utah, Salt Lake City, UT, USA.
Case Rep Genet ; 2024: 6475425, 2024.
Article en En | MEDLINE | ID: mdl-38756740
ABSTRACT
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a multisystem disabling disease with unclear etiology and pathophysiology, whose typical symptoms include prolonged debilitating recovery from fatigue or postexertional malaise (PEM). Disrupted production of adenosine triphosphate (ATP), the intracellular energy that fuels cellular activity, is a cause for fatigue. Here, we present a long-term case of ME/CFS a 75-year-old Caucasian female patient, whose symptoms of ME/CFS were clearly triggered by an acute infection of the Epstein-Barr virus 24 years ago (mononucleosis). Before then, the patient was a healthy professional woman. A recent DNA sequence analysis identified missense variants of mitochondrial respiratory chain enzymes, including ATP6 (ChrMT 8981A > G; Q152R) and Cox1 (ChrMT 6268C > T; A122V). Protein subunits ATP6 and Cox1 are encoded by mitochondrial DNA outside of the nucleus the Cox1 gene encodes subunit 1 of complex IV (CIV cytochrome c oxidase) and the ATP6 gene encodes subunit A of complex V (CV ATP synthase). CIV and CV are the last two of five essential enzymes that perform the mitochondrial electron transport respiratory chain reaction to generate ATP. Further analysis of the blood sample using transmission electron microscopy demonstrated abnormal, circulating, extracellular mitochondria. These results indicate that the patient had dysfunctional mitochondria, which may contribute directly to her major symptoms, including PEM and neurological and cognitive changes. Furthermore, the identified variants of ATP6 (ChrMT 8981A > G; Q152R) and Cox1 (ChrMT 6268C > T; A122V), functioning at a later stage of mitochondrial ATP production, may play a role in the abnormality of the patient's mitochondria and the development of her ME/CFS symptoms.

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Case Rep Genet Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Case Rep Genet Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos
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