COPY NUMBER VARIATION (CNVs) OF GENOMIC SEQUENCIES AND IMPLICATION ON PREMATURE OVARIAN INSUFFICIENCY

• Grant number: 17/11220-2
• Support Opportunities: Regular Research Grants
• Duration: November 01, 2018 - April 30, 2021
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Denise Maria Christofolini
• Grantee: Denise Maria Christofolini
• Host Institution: Centro Universitário Saúde ABC. Fundação do ABC. Santo André , SP, Brazil
• Associated researchers: Bianca Alves Vieira Bianco ; Caio Parente Barbosa

Abstract

Primary ovarian insufficiency (POI) is defined as cessation of menstruation before the age of 40 years and diagnosis is confirmed by elevated serum FSH levels (>25IU/l), observed in <1% of the population. The disorder is clearly heterogeneous, with a wide spectrum of causes, namely cytogenetic, genic, infectious or iatrogenic, autoimmune and metabolic. Among 10 and 15% cases has an affected first-degree relative, indicating significant genetic etiology. However, identifying precise causative genes has been challenging to researchers, including our research group. Since described by Feuk et al in 2004, CNVs have been pointed as a causative of several conditions. As CNVs can have functional genes they can result in variation on mRNA and protein levels of genes in the CNV region. Consequently, the difference in gene dosage can result in the manifestation of a "genetic disease". The introduction of new techniques for whole genome investigation, as the arrays to investigate CNVs could help to improve the knowledge of genetic factors associated to POI development. (AU)