Banca de QUALIFICAÇÃO: BEATRIZ HELENA DANTAS RODRIGUES DE ALBUQUERQUE

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
STUDENT : BEATRIZ HELENA DANTAS RODRIGUES DE ALBUQUERQUE
DATE: 10/10/2023
TIME: 09:00
LOCAL: Videoconferência - Link para acesso: https://meet.google.com/imr-ygpt-ntk
TITLE:

Characterization of genetic markers and viruses related to human semen quality

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 affects millions of couples worldwide, encompassing both the male and female reproductive systems. While male factors contribute to half of all infertility cases, a significant portion remains without an identified cause. This suggests the presence of unidentified etiological factors that are not adequately assessed by current diagnostic investigations. In this context, this study aimed to characterize molecular markers and viruses associated with male health and semen quality.The first chapter presents a comprehensive review of the human seminal virome. An increasing number of studies have explored viruses present in human semen, with a predominant focus on prospective or clinically specific findings. Through a collective analysis of these studies, we have compiled a list of viruses associated with the deterioration of seminal parameters. Furthermore, we propose a novel panel comprising the most frequently reported viruses, which may potentially impact fertility and male health. This panel can serve as a valuable tool in assessing semen quality and as an investigative resource for infertility cases. In the second chapter, we provide a review focused on genes and genetic variants relevant to the diagnosis and early detection of hereditary metabolic disorders. Over 220 genes associated with metabolic diseases have been identified, highlighting non-uniform chromosomal distribution, varying genetic variants, genetic testing, and phenotypic presentations. Finally, we propose the utilization of three distinct genetic panels for laboratory investigations related to amino acid metabolism, nuclear-encoded oxidative phosphorylation, and vitamin and cofactor metabolism disorders. In summary, the findings presented in this dissertation contribute to the development of precise diagnostics and treatments for conditions related to male fertility and overall male health.

COMMITTEE MEMBERS:
Externa ao Programa - 1718086 - DANIELLE BARBOSA MORAIS - nullPresidente - 1837354 - JULLIANE TAMARA ARAUJO DE MELO CAMPOS