Mitochondrial DNA Nucleotide Changes in Cataract and Glaucoma Patients in Senegal

Sokhna Oumou Ba; Fatimata Mbaye; Matar Ciss; Ndéye Ndoumbé Guéye; Mbacké Sembéne

doi:doi:10.11648/j.ijgg.20180603.11

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Mitochondrial DNA Nucleotide Changes in Cataract and Glaucoma Patients in Senegal

Sokhna Oumou Ba, Fatimata Mbaye, Matar Ciss, Ndéye Ndoumbé Guéye, Mbacké Sembéne

Published in International Journal of Genetics and Genomics (Volume 6, Issue 3)

Received: 3 October 2018 Accepted: 19 October 2018 Published: 6 November 2018

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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.

Published in	International Journal of Genetics and Genomics (Volume 6, Issue 3)
DOI	10.11648/j.ijgg.20180603.11
Page(s)	30-36
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2018. Published by Science Publishing Group

Keywords

Cataract, Glaucoma, DNA, Mitochondria, MT-CYB Gene

References

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Sokhna Oumou Ba, Fatimata Mbaye, Matar Ciss, Ndéye Ndoumbé Guéye, Mbacké Sembéne. (2018). Mitochondrial DNA Nucleotide Changes in Cataract and Glaucoma Patients in Senegal. International Journal of Genetics and Genomics, 6(3), 30-36. https://doi.org/10.11648/j.ijgg.20180603.11

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Sokhna Oumou Ba; Fatimata Mbaye; Matar Ciss; Ndéye Ndoumbé Guéye; Mbacké Sembéne. Mitochondrial DNA Nucleotide Changes in Cataract and Glaucoma Patients in Senegal. Int. J. Genet. Genomics 2018, 6(3), 30-36. doi: 10.11648/j.ijgg.20180603.11

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AMA Style

Sokhna Oumou Ba, Fatimata Mbaye, Matar Ciss, Ndéye Ndoumbé Guéye, Mbacké Sembéne. Mitochondrial DNA Nucleotide Changes in Cataract and Glaucoma Patients in Senegal. Int J Genet Genomics. 2018;6(3):30-36. doi: 10.11648/j.ijgg.20180603.11

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@article{10.11648/j.ijgg.20180603.11,
  author = {Sokhna Oumou Ba and Fatimata Mbaye and Matar Ciss and Ndéye Ndoumbé Guéye and Mbacké Sembéne},
  title = {Mitochondrial DNA Nucleotide Changes in Cataract and Glaucoma Patients in Senegal},
  journal = {International Journal of Genetics and Genomics},
  volume = {6},
  number = {3},
  pages = {30-36},
  doi = {10.11648/j.ijgg.20180603.11},
  url = {https://doi.org/10.11648/j.ijgg.20180603.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20180603.11},
  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.},
 year = {2018}
}

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TY - JOUR
T1 - Mitochondrial DNA Nucleotide Changes in Cataract and Glaucoma Patients in Senegal
AU - Sokhna Oumou Ba
AU - Fatimata Mbaye
AU - Matar Ciss
AU - Ndéye Ndoumbé Guéye
AU - Mbacké Sembéne
Y1 - 2018/11/06
PY - 2018
N1 - https://doi.org/10.11648/j.ijgg.20180603.11
DO - 10.11648/j.ijgg.20180603.11
T2 - International Journal of Genetics and Genomics
JF - International Journal of Genetics and Genomics
JO - International Journal of Genetics and Genomics
SP - 30
EP - 36
PB - Science Publishing Group
SN - 2376-7359
UR - https://doi.org/10.11648/j.ijgg.20180603.11
AB - 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.
VL - 6
IS - 3
ER -

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Author Information

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

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APA Style

Sokhna Oumou Ba, Fatimata Mbaye, Matar Ciss, Ndéye Ndoumbé Guéye, Mbacké Sembéne. (2018). Mitochondrial DNA Nucleotide Changes in Cataract and Glaucoma Patients in Senegal. International Journal of Genetics and Genomics, 6(3), 30-36. https://doi.org/10.11648/j.ijgg.20180603.11

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Sokhna Oumou Ba; Fatimata Mbaye; Matar Ciss; Ndéye Ndoumbé Guéye; Mbacké Sembéne. Mitochondrial DNA Nucleotide Changes in Cataract and Glaucoma Patients in Senegal. Int. J. Genet. Genomics 2018, 6(3), 30-36. doi: 10.11648/j.ijgg.20180603.11

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AMA Style

Sokhna Oumou Ba, Fatimata Mbaye, Matar Ciss, Ndéye Ndoumbé Guéye, Mbacké Sembéne. Mitochondrial DNA Nucleotide Changes in Cataract and Glaucoma Patients in Senegal. Int J Genet Genomics. 2018;6(3):30-36. doi: 10.11648/j.ijgg.20180603.11

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@article{10.11648/j.ijgg.20180603.11,
  author = {Sokhna Oumou Ba and Fatimata Mbaye and Matar Ciss and Ndéye Ndoumbé Guéye and Mbacké Sembéne},
  title = {Mitochondrial DNA Nucleotide Changes in Cataract and Glaucoma Patients in Senegal},
  journal = {International Journal of Genetics and Genomics},
  volume = {6},
  number = {3},
  pages = {30-36},
  doi = {10.11648/j.ijgg.20180603.11},
  url = {https://doi.org/10.11648/j.ijgg.20180603.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20180603.11},
  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.},
 year = {2018}
}

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