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Abstract
Cataract and glaucoma are the leading causes of blindness in the world. The aim of this study was to investigate the involvement of somatic mutations of the MT-CYB gene in glaucoma and cataract cases among Senegalese patients. 38 samples including 12 controls and 26 patients (18 cataracts, 8 glaucomas) were used to study polymorphism, diversity and genetic structuration of the MT-CYB gene. DNA was isolated from whole blood samples and then the gene was genotyped by PCR-Sequencing. The study of the chromatograms and sequences obtained made it possible to detect a total of twenty-four (24) variants among which nine (9) non-synonymous mutations with seven (7) different positions. Two of them were common to both pathologies (G71A, T96C) and predicted to be non-pathogenic. The insertion, T235TA was specific for glaucoma and is known to be pathogenic. Four (4) mutations were specific to cataract (T118TC, A401AC, G402C and A408AC). T118TC and A408C are predicted pathogenic. A total of four (4) haplogroups (H, J, L and M) were found in this study. The haplogroups H and L are significantly represented in patients with cataract (H: p-value = 1.72182e-09 and L: p-value = 0.000351) and glaucoma (H: p-value = 3.333e-08 and L: p-value = 0.009398). The results also revealed a differentiation only between controls and glaucoma patients (Fst = 0.17144 and p-value = 0.0019) and between controls and glaucomatous belonging to haplogroup L (Fst = 0.47368 and p-value = 0.0156). The conclusions from this work were that contrary to cataract, MT-CYB somatic mutations are involved in the occurrence of glaucoma in Senegalese and this involvement is correlated with mitochondrial haplogroup L.
Highlights
The vision is the most precious of the five senses
Four mutations, (T118TC, A401AC, G402C and A408AC) were specific to cataract while T118TC and A408C are predicted to be pathogenic
The pathologic mutations that are observed in the MT-CYB gene could disrupt the normal activity of the electron transport chain, which could affect the production of ATP and increase the production of reactive oxygen species (ROS) [32]
Summary
The vision is the most precious of the five senses. According to the World Health Organization [1], in 2010, close to 285 million people were visually impaired, with 39 million of them blind. Ninety percent (90%) of people with visual impairments live in low-income countries [1] Cataract is one of the main causes of blindness and visual impairment worldwide, increasing the public health and economic burden of this disease [2]. According to the National Blindness Control Program, the prevalence of blindness in Senegal is 1.4% and glaucoma is the third main cause of blindness after cataract and trachoma; with a prevalence of 0.14% [5]. These barriers emphasize the importance of preventing or delaying cataract and glaucoma formation
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