Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2024
Increase in blood derived mitochondrial DNA copy number in strabismus patients.
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Zehra Zainab, Zia Muhammad Amn, Siddiqui Sorath Noorani, von Bartheld Christopher S, Azam Maleeha, Qamar Raheel
Аннотация
BACKGROUND: Abnormalities in mitochondrial energy homeostasis can lead to various disorders, including ocular motility aberrations. Previous studies have suggested the involvement of mitochondrial aberrations in strabismus etiology. We compared the blood-derived mitochondrial DNA (mtDNA) copy number from comitant strabismus patients with that from age-matched controls, and also compared expression of mitochondrial biogenesis genes in a separate set of extraocular muscle samples from strabismic and control subjects.
METHODS: Blood samples from 93 strabismic (39 esotropic, 54 exotropic) and 93 control subjects were analyzed for mtDNA copy number through quantitative polymerase chain reaction. We also examined the expression of 6 genes involved in mitochondrial biogenesis in cDNA obtained from extraocular muscles of a separate group of 26 strabismus patients and 4 healthy controls.
RESULTS: The mtDNA content was significantly higher in strabismus patients as compared to the control group, both overall (fold change, 1.39; Z = -2.43 [P = 0.01]) and in strabismus subgroups (esotropia: fold change,1.42; Z = 2.59 [P = 0.0096]; exotropia: fold change, 1.41, Z = 3.35 [P = 0.00078]). No significant difference was observed in the expression of the examined biogenesis genes between strabismus and control groups.
CONCLUSIONS: Our results suggest an association between mtDNA copy number and strabismus; however, further studies are required to elucidate the significance of altered mtDNA in strabismus and its possible significance with regard to the etiology of strabismus.
METHODS: Blood samples from 93 strabismic (39 esotropic, 54 exotropic) and 93 control subjects were analyzed for mtDNA copy number through quantitative polymerase chain reaction. We also examined the expression of 6 genes involved in mitochondrial biogenesis in cDNA obtained from extraocular muscles of a separate group of 26 strabismus patients and 4 healthy controls.
RESULTS: The mtDNA content was significantly higher in strabismus patients as compared to the control group, both overall (fold change, 1.39; Z = -2.43 [P = 0.01]) and in strabismus subgroups (esotropia: fold change,1.42; Z = 2.59 [P = 0.0096]; exotropia: fold change, 1.41, Z = 3.35 [P = 0.00078]). No significant difference was observed in the expression of the examined biogenesis genes between strabismus and control groups.
CONCLUSIONS: Our results suggest an association between mtDNA copy number and strabismus; however, further studies are required to elucidate the significance of altered mtDNA in strabismus and its possible significance with regard to the etiology of strabismus.