Volume 6, Issue 3, September 2018, Page: 30-36
Mitochondrial DNA Nucleotide Changes in Cataract and Glaucoma Patients in Senegal
Sokhna Oumou Ba, Genetic for Gestion of Population team (GENGESPOP), Department of Animal Biology, Faculty of sciences and Technics, Cheikh Anta Diop University, Dakar, Senegal
Fatimata Mbaye, Genetic for Gestion of Population team (GENGESPOP), Department of Animal Biology, Faculty of sciences and Technics, Cheikh Anta Diop University, Dakar, Senegal
Matar Ciss, Genetic for Gestion of Population team (GENGESPOP), Department of Animal Biology, Faculty of sciences and Technics, Cheikh Anta Diop University, Dakar, Senegal
Ndéye Ndoumbé Guéye, Ophthalmology Department, Principal Hospital, Dakar, Senegal
Mbacké Sembéne, Genetic for Gestion of Population team (GENGESPOP), Department of Animal Biology, Faculty of sciences and Technics, Cheikh Anta Diop University, Dakar, Senegal
Received: Oct. 3, 2018;       Accepted: Oct. 19, 2018;       Published: Nov. 6, 2018
DOI: 10.11648/j.ijgg.20180603.11      View  1211      Downloads  140
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.
Cataract, Glaucoma, DNA, Mitochondria, MT-CYB Gene
To cite this article
Sokhna Oumou Ba, Fatimata Mbaye, Matar Ciss, Ndéye Ndoumbé Guéye, Mbacké Sembéne, Mitochondrial DNA Nucleotide Changes in Cataract and Glaucoma Patients in Senegal, International Journal of Genetics and Genomics. Vol. 6, No. 3, 2018, pp. 30-36. doi: 10.11648/j.ijgg.20180603.11
Copyright © 2018 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
World Health Organization. (2012). Global Data on Visual Impairments 2010. WHO/NMH/PBD/12.01.
Javitt, J. C., Wang, F. & West, S. K. (1996). Blindness due to cataract: epidemiology and prevention. Annu Rev Public Health. 17() , 159-77.
McGwin, G., Khoury, R., Cross, J. & Owsley, C. (2010). Vision impairment and eye care utilization among Americans 50 and older. Curr Eye Res. Jun; 35(6): 451-8. doi: 10.3109/02713681003664931.
Athanasiov, P. A., Edussuriya, K., Senaratne, T., Sennanayake, S., Sullivan, T., Selva, D. & Casson, R. J. (2010). Cataract in Central Sri Lanka: Prevalence and Risk Factors from the Kandy Eye Study. Ophthalmic Epidemiology. 17(1), 34–40.
Sarr, B. (2008) Pathologies oculaires courantes. PNLC. 2-20.
Damji, K. F. (1999). Advances in molecular genetics of glaucoma: a perspective for the clinician. Semin Ophthalmol. 14(3): 171-179.
Liu, Y., Munro, D., Layfield, D., Dellinger, A., Walter, J., Peterson, K., Rickman, C. B., Allingham, R. R. & Hauser, M. A. (2011). Serial analysis of gene expression (SAGE) in normal human trabecular meshwork. Mol Vis. 93, 817-885.
Brennan, L. A. & Kantorow, M. (2009). Mitochondrial function and redox control in the aging eye: role of MSRA and other repair systems in cataract and macular degenerations. Exp Eye Res. 88, 195–203.
Jarrett, S. G., Alfred, S. L. & Michael, E. B. (2010). The Importance of Mitochondria in Age-Related and Inherited Eye Disorders. Ophthalmic Res. 44, 179–190.
Osborne, N. N. (2010). Mitochondria: Their role in ganglion cell death and survival in primary open angle glaucoma. Exp Eye Res. 90: 750–7.
Izzotti, A., Longobardi, M., Cartiglia C. & Sacca, S. C. (2011) Mitochondrial damage in the trabecular meshwork occurs only in primary open-angle glaucoma and in pseudoexfoliative glaucoma. PLoS One. 6: e14567.
Abu-Amero, K. K., Morales, J. & Bosley, T. M. (2006). Mitochondrial abnormalities in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 47, 2533–2541.
Abu-Amero, K. K., González, A. M., Osman, E. A., Larruga, J. M., Cabrera, V. M. & Al-Obeidan, S. A. (2011). Susceptibility to primary angle closure glaucoma in Saudi Arabia: the possible role of mitochondrial DNA ancestry informative haplogroups. Mol Vis. 17(), 2171-2176.
Mbaye, F., Dem, A., Fall, M., Diop, G., Mbengue, B., Diallo, R. N., Niang, M. S., Kane, M., Ka, S., Diéye, A. & Sembène, M. (2014). Genetic Diversity of Breast Cancer in Senegalese Women: New Insight from Somatic Mutations. Journal of Health Science. 4 (2), 25-33.
Adzhubei, I., Jordan, D. M. & Sunyaev, S. R. (2013). Predicting functional effect of human missense mutations using polyPhen-2. Current Protocols in Human Genetics. Chapter 7, (7-20).
Kumar, P., Henikoff, S. & Ng, P. C. (2009). Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature Protocols. 4(7), 1073-1081.
Choi, Y., Sims, G. E., Murphy, S., Miller, J. R. & Chan, A. P. (2012). Predicting the functional effect of amino acid substitutions and indels. PloS one, 7, e46688.
Hall, T. (1999). BioEdit version 7.1.9. Department of Microbiology, North Carolina State University.
Lott, M. T., Leipzig, J. N., Derbeneva, O., Xie, H. M., Chalkia, D., Sarmady, M., Procaccio, V. & Wallace D. C. (2009). MITOMASTER – A Bioinformatics Tool For the Analysis of Mitochondrial DNA Sequences. Hum Mutat. 2009 Jan; 30(1): 1–6.
Rozas, J., Librado, P., Sánchez-Del Barrio, J. C., Messeguer, X. & Rozas, R. (2010). DnaSP Version 5 Help Contents [Help File]. Available with the program at http://www.ub.edu/dnasp/.
Tamura, K., Stecher, G., Peterson, D., Filipski, A. & Kumar, S. (2014). "MEGA 7: Molecular Evolutionary Genetics Analysis using Maximum Likelihood, Evolutionary Distance, and Maximum Parsimony Methods". Molecular Biology and Evolution. 30, 2725-2729.
Excoffier, L., Laval, G. & Schneider, S. (2005). Arlequin version. 3.0: An integrated software package for population genetics data analysis. Evolutionary Bioinformatics Online. 1, 47-50.
Astafurov, K., Elhawy, E., Ren, L., Dong, C. Q., Igboin, C., Hyman, L., Griffen, A., Mittag, T. & Danias, J. (2014). Oral microbiome link to neurodegeneration in glaucoma. PLoS One. 9(9), 104-416.
Ma, J., Coarfa, C., Qin, X., Bonnen, P. E., Milosavljevic, A., Versalovic, J. & Aagaard, K. (2014). mtDNA haplogroup and single nucleotide polymorphisms structure human microbiome communities. BMC Genomics. 15(), 257.
Collins, D. W., Gudiseva, H. V., Trachtman, B., Bowman, A. S., Sagaser, A., Sankar, P., Miller-Ellis, E., Lehman, A., Addis, V. & O'Brien, J. M. (2016). Association of primary open-angle glaucoma with mitochondrial variants and haplogroups common in African Americans. Mol Vis. 22 (), 454-471.
Goymer, P. (2007). Synonymous mutations break their silence. Nat Rev Genet. 8, 92.
Howell, N. (2003). LHON and other optic nerve atrophies: the mitochondrial connection. Dev Ophthalmol.37, 94–108.
Tezel, G. & Wax, M. B. (2003). Glial modulation of retinal ganglion cell death in glaucoma. JGlaucoma.12(1): 63-8.
West A. P., Shadel G. S. & Ghosh S. (2011). Mitochondria in innate immune responses. Nat Rev Immunol. 11(6): 389-402.
Kenney, M C., Chwa, M., Atilano, S R., Falatoonzadeh, P., Ramirez, C., Malik, D., Tarek, M., Del Carpio, J. C., Nesburn, A. B., Boyer, D. S., Kuppermann, B. D., Vawter, M. P., Jazwinski, S. M., Miceli, M. V., Wallace, D. C. & Udar, N. (2014). Molecular and bioenergetic differences between cells with African versus European inherited mitochondrial DNA haplogroups: implications for population susceptibility to diseases. Biochim Biophys Acta. 1842(2), 208-219.
Abu-Amero, K. K., Morales, J., Bosley, T. M., Mohamed, G. H. & Cabrera, V. M. (2008). The role of mitochondrial haplogroups in glaucoma: a study in an Arab population. Mol Vis. 14(), 518-522.
Abu-Amero, K. K., Hauser, M. A., Mohamed, G., Liu, Y., Gibson, J., Gonzalez, A. M., Akafo, S. & Allingham, R. R. (2012). Mitochondrial genetic background in Ghanaian patients with primary open-angle glaucoma. Mol Vis. 18(), 1955-1959.
Andrews, R., Ressiniotis, T., Turnbull, D. M., Birch, M., Keers, S., Chinnery, P. F. & Griffiths, P. G. (2006). The role of mitochondrial haplogroups in primary open angle glaucoma. Br J Ophthalmol. 90(4), 488-490.
Sekiguchi, M. & Tsuzuki, T. (2002). Oxidative nucleotide damage: consequences and prevention. Oncogene. 21: 8895–8904.
Roshan, M., Kabekkodu, S. P., Vijaya, P. H., Manjunath, K., Graw, J., Gopinath, P. M. & Satyamoorthy, K. (2012). Analysis of mitochondrial DNA variations in Indian patients with congenital cataract. Mol Vis. 18, 181-193.
Browse journals by subject