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Studying Vsx1 Gene Mutations in Patients With Keratoconus of Chaharmahal and Bakhtiari Province, Iran



Dehkordi FA1 ; Rashki A2 ; Bagheri N3 ; Chaleshtori MH4 ; Memarzadeh E5 ; Salehi A5 ; Ghatreh H5 ; Hydari S1 ; Yazdanpanahi N6 ; Ghalehnoo ZA7 ; Merzaeyan A8 ; Ghalehstori MH1
Authors
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Authors Affiliations
  1. 1. Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrkord, Iran
  2. 2. Physiopathology Dep, Zabol University, Zabol, Iran
  3. 3. Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Isfahan University of Medical Sciences, Tehran, Iran
  5. 5. Shahrekord University of Medical Sciences, Isfahan, Iran
  6. 6. Department of Biochemistry, Islamic Azad University, Falavarjan Branch, Isfahan, Iran
  7. 7. Department of Microbiology and Parasitology, University of Zabol, Zabol, Iran
  8. 8. Laboratory Sciences, Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Sharhrekord, Iran

Source: Journal of Kerman University of Medical Sciences Published:2013

Abstract

Background & Aims: Keratoconus (KC) is an eye disorder in which the cornea is swollen, thinned and deformed. Despite extensive studies, the pathophysiological processes and genetic etiology of KC is unknown. The disease incidence is approximately 1 in 2000 and is the most common cause of corneal transplantation in the US. Many genes are involved in the disease, but evidence suggests a major role for VSX1 in the etiology of KC. This study aimed to determine the frequency of mutations in exons 2, 4 of the VSX1 gene in Chaharmahal and Bakhtiari province, Iran. Methods: In this experimental study, mutations in two exons including exons 2 and 4 of VSX1 were investigated in 50 patients with KC. DNA was extracted using a standard phenol-chloroform method. PCRSSCP/ HA was performed, followed by DNA sequencing to confirm the identified motility shift. Results: H244R mutation was identified in exon 4 of only one patient. Conclusion: Our investigation showed that the KC-related VSX1 mutations are found in very small samples in the study subjects from Iran. Further investigations on other genes are needed to clarify their roles in KC pathogenesis.
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