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Near-Infrared Spectroscopy Screening to Allow Detection of Pathogenic Mitochondrial DNA Variants in Individuals with Unexplained Abnormal Fatigue: A Preliminary Study
- Source :
- Applied spectroscopy. 72(5)
- Publication Year :
- 2018
-
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
- Subjects :
- Adult
Male
Mitochondrial DNA
Pathology
medicine.medical_specialty
spectroscopy
NEAR-INFRARED SPECTROSCOPY
Mitochondrial Diseases
Population
Pilot Projects
DNA, Mitochondrial
03 medical and health sciences
0302 clinical medicine
Mitochondrial myopathy
mitochondrial dysfunction
Medicine
Humans
030212 general & internal medicine
education
Muscle, Skeletal
Instrumentation
pathogenic mitochondrial DNA
Skin
education.field_of_study
Microscopy
Fatigue Syndrome, Chronic
Spectroscopy, Near-Infrared
Hand Strength
business.industry
Point mutation
Skeletal muscle
Chronic fatigue
NIR
Middle Aged
medicine.disease
unexplained abnormal fatigue
Mitochondria
medicine.anatomical_structure
Mitochondrial abnormalities
Case-Control Studies
Oxyhemoglobins
Abnormal fatigue
Female
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 19433530
- Volume :
- 72
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Applied spectroscopy
- Accession number :
- edsair.doi.dedup.....ba14143dc943667b1ec5214d7bceb035