Banca de DEFESA: BEATRIZ HELENA DANTAS RODRIGUES DE ALBUQUERQUE

Uma banca de DEFESA de MESTRADO foi cadastrada pelo programa.
STUDENT : BEATRIZ HELENA DANTAS RODRIGUES DE ALBUQUERQUE
DATE: 10/11/2023
TIME: 14:00
LOCAL: Videoconferência - Link para acesso: https://meet.google.com/vrt-vmep-xsq
TITLE:

 

CHARACTERIZATION OF MOLECULAR MARKERS WITH POTENTIAL FOR SEMINAL SCREENING: VIRUSES AND METABOLIC DISEASES

KEY WORDS:

 

Male infertility; Assisted human reproduction; Men's health; Molecular diagnosis; Seminal virome; Genetic factors; Metabolic diseases; Genetic panels.

PAGES: 110
BIG AREA: Ciências Biológicas
AREA: Bioquímica
SUMMARY:

 

Infertility is a condition that affects millions of couples of reproductive age worldwide, involving both the male and female reproductive systems. While male factors contribute to half of infertility cases, a significant portion of these cases remains without an identified cause. This suggests the possibility of unidentified etiological factors that are not adequately assessed by current diagnostic investigations. In this context, the conducted study aimed to characterize molecular markers and viruses associated with male health and semen quality. The first chapter provides a comprehensive review of the human seminal virome. It was observed that the number of studies investigating viruses occurring in human semen has increased, and thus far, these studies have mostly been prospective or related to specific clinical findings. Through the combined analysis of all these articles, viruses related to deteriorating seminal parameters were listed, and a new panel with the main viruses already described that possibly affect fertility and male health was proposed. This panel can assist in evaluating semen quality and serve as a research tool in cases of infertility. The second chapter aimed to identify genes relevant to the diagnosis and early detection of hereditary metabolic disorders, using renowned databases such as OMIM and Orphanet. A total of 228 genes associated with metabolic disorders, referred to as GADM here, were identified from the 372 records extracted from OMIM. Notably, these genes are distributed across nearly all chromosomes, with a notable absence on the Y chromosome. In terms of genetic variants, the APOB gene stood out with the highest number recorded. Delving into phenotype prevalence, amino acid metabolism disorders emerged as the most prevalent category. It was also observed that autosomal recessive inheritance was dominant. Through a meticulous analysis of protein-protein interactions, an intricate network linking genes with highly prevalent phenotypes to less frequent ones was revealed. This mapping has significant implications as it indicates key genes for future investigations. From this research, targeted panels of primary genes for screening and diagnosing metabolic diseases in various contexts were established. This study underscores the need to integrate protein-protein interaction data to illuminate the underlying mechanisms of metabolic phenotypes and potentially discover new therapeutic targets or biomarkers for these conditions. In summary, the findings of this dissertation contribute to advancing diagnostic strategies for male factor infertility and to a more comprehensive understanding of genetic and reproductive counseling for metabolic diseases.

COMMITTEE MEMBERS:
Presidente - 1880243 - DANIEL CARLOS FERREIRA LANZA
Externa à Instituição - DANIELLE BARBOSA MORAIS - UFOP
Interna - 1837354 - JULLIANE TAMARA ARAUJO DE MELO CAMPOS
Externa à Instituição - KYVIA BEZERRA MOTA - UFRN