Absence of the c.169+50delTAAACAG mutation of SOD1 gene in a sample of keratoconus patients in Brazilian population

Author(s)

Lopes, Alessandro Garcia ^{[1, 2]} ; de Almeida Junior, Gildasio Castello ^[3] ; Teixeira, Ronan Marques ^[1] ; de Mattos, Luiz Carlos ^[2] ; de Mattos, Cinara Cassia Brandao ^[2] ; Castiglioni, Lilian ^{[1, 4]}

Affiliation

^[1] Univ Estadual Paulista, Biol Dept, Inst Biociencias Letras & Ciencias Exatas, IBILCE UNESP, Rua Cristovao Colombo, 2265, BR-15054000 Sao Paulo, SP - Brazil

^[2] Fac Med Sao Jose Rio Preto FAMERP, Immunogenet Lab, Mol Biol Dept, Ave Brigadeiro Faria Lima, 5416, BR-15090000 Sao Paulo, SP - Brazil

^[3] Fundacao Fac Reg Med HB FUNFARME, Hosp Base Sao Jose Rio Preto, Ophthalmol Outpatient Clin, Ave Brigadeiro Faria Lima, 5544, BR-15090000 Sao Paulo, SP - Brazil

^[4] Fac Med Sao Jose Rio Preto FAMERP, Epidemiol & Hlth Dept, Ave Brigadeiro Faria Lima, 5416, BR-15090000 Sao Paulo, SP - Brazil

• Document type: Journal article
• Source: BMC RESEARCH NOTES; v. 13, n. 1 JUL 9 2020.
• Web of Science Citations: 1

Abstract

Objective To determine the presence of the 7-bp deletion c.169+50delTAAACAG in intron 2 ofSuperoxide Dismutase-1gene in keratoconic patients from the State of Sao Paulo, Brazil, which promotes splicing variations, resulting in non-functional Superoxide Dismutase-1 antioxidant proteins, which may damage the corneal structure. Results A group of 35 keratoconic patients, from whom 35 peripheral blood samples and 58 samples of corneal fragments were evaluated, and a control group of 89 individuals, from whom 41 blood samples and 149 samples of corneal fragments were collected. After the amplification of DNA fragments by polymerase chain reaction, mutational screening analysis was performed by enzymatic digestion, followed by direct sequencing. The absence of the 7-bp c.169+50delTAAACAG mutation in intron 2 of Superoxide Dismutase-1 gene was detected in the analyzed subjects of the 2 groups, both in the cornea and peripheral blood samples. Then, according to our results, there is no involvement of c.169+50delTAAACAG deletion in the pathogenesis of keratoconus in this population, once it was not detected. But we emphasize that studies involving this deletion must be continued in an attempt to elucidate this issue. (AU)

• FAPESP's process: 15/17226-7 - Biomarkers in ocular diseases
• Grantee: Gildásio Castello de Almeida Júnior
• Support Opportunities: Regular Research Grants