TY - JOUR
T1 - Near-Infrared Spectroscopy Screening to Allow Detection of Pathogenic Mitochondrial DNA Variants in Individuals with Unexplained Abnormal Fatigue
T2 - A Preliminary Study
AU - Celie, Bert M
AU - Mariman, An
AU - Boone, Jan
AU - Delesie, Liesbeth
AU - Tobback, Els
AU - Seneca, Sara
AU - De Paepe, Boel
AU - Vogelaers, Dirk
AU - Van Coster, Rudy N
AU - Bourgois, Jan G
PY - 2018/5/1
Y1 - 2018/5/1
N2 - 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.
AB - 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.
KW - mitochondrial dysfunction
KW - Near-infrared spectroscopy
KW - NIR
KW - pathogenic mitochondrial DNA
KW - unexplained abnormal fatigue
UR - http://www.scopus.com/inward/record.url?scp=85044066599&partnerID=8YFLogxK
U2 - 10.1177/0003702818756647
DO - 10.1177/0003702818756647
M3 - Article
C2 - 29336589
VL - 72
SP - 715
EP - 724
JO - Applied Spectroscopy
JF - Applied Spectroscopy
SN - 0003-7028
IS - 5
ER -