Study of NAPRT and NAMPT genetic alterations in cancer

• Autor(a) principal: Silva, Joana Costa e
• Data de Publicação: 2021
• Tipo de documento: Dissertação
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10773/31017
• topic: NAD metabolism; NAPRT; NAMPT; Cancer; Saliva

NAD+ is both a co-enzyme for oxidation-reduction reactions and a substrate for NAD+ -consuming enzymes and therefore, it is critical for many cellular processes. In mammalian cells, intracellular NAD+ can be synthesized through either de novo synthesis, from tryptophan, or via salvage pathways, from other precursors, such as NAM and NA which are converted by NAMPT and NAPRT, respectively. Changes in the NAD+ content in cells and tissues are linked with a wide variety of diseases, including cancer. A large proportion of cancer cases is still diagnosed only at an advanced stage and thus, there is a need for new affordable, specific, sensitive and non-invasive biomarkers. Salivary biomarkers can meet these criteria and thus, are promising tools in cancer screening, diagnostic and prognostic. The main objective of this work was to study genetic alterations in NAMPT and NAPRT in DNA samples from healthy donors and in samples from cancer patients. For this, DNA and RNA extraction from saliva samples was optimized, as a starting point to study this biofluid as a source for cancer biomarkers. The results from the bioinformatics analysis showed that the frequency of alterations in NAPRT and NAMPT genes is low in the cancer contexts investigated. Nevertheless, it is still necessary to further study the impact that these alterations might have. There is also a great need to investigate and optimize methods for saliva studies, in order to promote it as a liquid biopsy of regular use in clinical settings.