Reproductive Genetics & Embryo-fetal Development
Our research group focuses on the molecular mechanisms that control gametogenesis and embryo-fetal development. The specific objectives are: 1) Identify epigenetic biomarkers associated with male infertility and the molecular mechanisms driving embryo and fetal development; 2) To determine the impact of metabolic-related diseases and age on the molecular mechanisms regulating spermatogenesis.
One of the major research lines is the genetics of male infertility. To contribute to a better understanding of the cellular and molecular characteristics of male infertility several areas of research were developed: a) Y chromosome microdeletions and their association with the sperm production - Y chromosome microdeletions were shown to affect about 10% of azoospermic patients (sperm absent in semen) and 15% idiopathic severe oligozoospermic patients; b) Cystic Fibrosis gene mutations in infertile patients with congenital absence of the vas deferens - This study enabled us to detect the frequency and type of CFTR gene mutations in Portuguese infertile patients with CAVD as well as to identify patients at risk of transmitting CFTR mutations to the offspring; c) Genomic imprinting in human spermatogenesis - We have first described that imprinting errors may occur in the male germ line in association with disruptive spermatogenesis; Current research aim to identify epigenetic alterations in cases with affected gametes production, namely imprinting errors in germ cells from infertile patients, but also imprinted genes deregulation in human placentas from pregnancies IUGR. Ongoing work is focused on epigenetic regulators, TET enzymes and DNA hydroxymethylation in testicular biopsies from infertile patients; d) Pinpoint specific pathways that are altered in testicular cells/tissue in both aged individuals and those with metabolic pathologies, identifying specific players responsible for the disruption of the testicular metabolic cooperation.