Near-Infrared Spectroscopy Screening to Allow Detection of Pathogenic Mitochondrial DNA Variants in Individuals with Unexplained Abnormal Fatigue: A Preliminary Study

Bert M Celie, An Mariman, Jan Boone, Liesbeth Delesie, Els Tobback, Sara Seneca, Boel De Paepe, Dirk Vogelaers, Rudy N Van Coster, Jan G Bourgois

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

Unexplained abnormal fatigue is characterized by chronic fatigue persisting for at least six months and not sufficiently explained by any recognized medical condition. In this pilot study, twelve individuals with abnormal fatigue remaining unexplained after thorough screening were investigated using a near-infrared (NIR) spectroscopy handgrip test. Four of them were found to have an abnormal oxygen extraction pattern similar to participants with documented mitochondrial myopathy. In three of the four individuals, diverse mitochondrial abnormalities were documented by spectrophotometric, immunocytological, fluorescent, and morphological analyses performed in skeletal muscle and in cultured skin fibroblasts. Three of the four participants with decreased muscular oxygen extraction were each shown to harbor a different homoplasmic pathogenic mitochondrial DNA point mutation (m.961T > C, m.1555A > G, m.14484T > C). In the fourth participant, the presence of multiple large mitochondrial DNA deletions was suspected in muscle tissue. In contrast, none of the eight abnormally fatigued participants with normal NIR spectroscopy results harbored either a pathogenic mitochondrial DNA point mutation or large deletions ( P < 0.001). This pilot study shows that NIR spectroscopy may serve as a non-invasive screening tool to delineate a subgroup (of participants) with mitochondrial dysfunction among the large group of individuals with unexplained abnormal fatigue.

Original languageEnglish
Pages (from-to)715-724
Number of pages10
JournalApplied Spectroscopy
Volume72
Issue number5
Early online date1 Jan 2018
DOIs
Publication statusPublished - 1 May 2018

Keywords

  • mitochondrial dysfunction
  • Near-infrared spectroscopy
  • NIR
  • pathogenic mitochondrial DNA
  • unexplained abnormal fatigue

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