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Correlation between polymorphisms in genes CYP19, CYP11a, CYP17, CYP21 and Follistatin associated with Polycystic Ovary Syndrome in women of childbearing age in Ambato, Ecuador 2019-2021
Ecuador (AEMPPI) - Universidad Regional Autonoma de los Andes, Ambato
Genetic, genomic and precision medicine research unit of the Universidad Regional Autónoma de los Andes, Km 5 1/2 via Baños, 180166, Ambato, Ecuador.
MD. Juan Viteri
MD. Juan Viteri
Type of Research Project
- Clinical Project with Laboratory work
What is the background of the project?
Polycystic ovary syndrome (PCOS) is the most common endocrine disease on childbearing age women, in Ecuador it maintains a prevalence of 12.5% in Guayaquil and 5.1% in Cuenca. (Barreto and Gaete, 2017). Polycystic ovary syndrome is the most frequent endocrine-metabolic dysfunction in women, appears frequently after menarche, considers the main cause of hyperandrogenism. It generates a hormonal imbalance of atypical production of steroids, estrogens and androgens, preventing ovulation with abnormal follicle growth. In addition, it causes alterations in the menstrual cycle, promotes the formation of cysts in the ovaries and the increase in their size, acne, hirsutism, poor breast development, obesity, infertility and emotional changes. The affectation of women in the same family provides an indication of the genetic transmission of this pathology, however, until now a clear pattern of Mendelian inheritance has not been determined (Ovies Carballo et., 2016). Environmental factors can contribute to the development of this syndrome. Several functional genes have been studied as triggers of this pathology (Ovies Carballo et., 2016), but in our country no study has been conducted that contemplates the molecular basis of Polycystic Ovarian Syndrome. The study of pathologies that affect the Ecuadorian population and that have no molecular basis identified opens a new window to be able to treat patients based on their etiology and individually.
What is the aim of the project?
Identify the molecular genetic basis of Polycystic Ovary Syndrome (PCOS) and relationship with the clinical manifestations of patients.
What techniques and methods are used?
Recruitment families with women carrying Polycystic Ovarian Syndrome previously diagnosed by endovaginal ultrasound from the city of Ambato • Extraction of venous blood from patients with the pathology. • Hormonal analysis of patients with laboratory tests: luteinizing hormone (LH), Follicle Stimulating Hormone (FSH), sex hormone binding globulin (SHBG), testosterone, progesterone, prolactin. • Deoxyribonucleic acid (DNA) extraction and amplification of the sample by Polymerase Chain Reaction (PCR). • Sequencing of segments suspected of polymorphism of the CYP19, CYP11a (cytochrome P450 21-hydrolase), CYP17 (cytochrome P450 17-hydrolase), CYP21 (cytochrome P450 21-hydrolase) and FST (follistatin) genes. • Analysis of the results using Statistical Package for the Social Sciences (SPSS) platform and determination of the responsible genes, through relationship between the affected genes and the patients' clinic. (correlation study)
What is the role of the student?
- The student will mainly observe
- The student will observe the practical experiments but will be highly involved in the analysis of the results
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
The student is expected to help in the construction of the projects theoretical framework, extraction of blood samples, deoxyribonucleic acid (DNA) extraction and amplification of the sample by Polymerase Chain Reaction (PCR), sequencing of segments suspected of polymorphism. He or she will assist in the development of databases by managing data input, data layout, and data presentation. Databases will be created on Statistical Package for the Social Sciences (SPSS) platform. As a member of the research group the student is required to participate in the obtainment of preliminary results. An active involvement in our discussion sessions is essential for successful communication within the research group.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
Seminars by the School of Medicine for the proper management of laboratory, as well as the equipment to be used, extraction of blood samples, support in analysis, deoxyribonucleic acid (DNA) extraction and amplification of the sample by Polymerase Chain Reaction (PCR), sequencing of segments suspected of polymorphism, the teaching will occur two times in a week, are going to be conducted by the tutor and lab staff.
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- The student will prepare a poster
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
Proficiency reading in English. Basic knowledge in laboratory practices Subjects passed: epidemiology, biochemistry, cellular and molecular biology, anatomy, physiology, genetics.
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students
- Barreto Cabrera V; Gaete Guerrero S. Características del síndrome de ovario poliquístico en pacientes atendidas en el Centro de Atención Ambulatoria de Cuenca CAA 302 (IESS). Enero 2014 – Diciembre 2015 [Internet]. Dspace.ucuenca.edu.ec. 2017 [cited 1 November 2017]. Available from: http://dspace.ucuenca.edu.ec/handle/123456789/25838
- SINDROME DE OVARIOS POLIQUISTICOS [Internet]. Med.unne.edu.ar. 2017 [cited 1 November 2017]. Available from: https://med.unne.edu.ar/revista/revista125/sind_ova_pol.htm
- Ovies Carballo G; Martínez de Sandelices A; Monteagudo Peña G; Sardiñas Díaz I. Bases genéticas del síndrome de ovarios poliquísticos [Internet]. Scielo.sld.cu. 2017 [cited 1 November 2017]. Available from: http://scielo.sld.cu/scielo.php?pid=S1561-29532011000300008&script=sci_arttext&tlng=pt
- Urbanek M e. Thirty-seven candidate genes for polycystic ovary syndrome: strongest evidence for linkage is with follistatin. - PubMed - NCBI [Internet]. Ncbi.nlm.nih.gov. 2017 [cited 1 November 2017]. Available from: https://www.ncbi.nlm.nih.gov/pubmed/10411917
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