Phenotypic and functional evaluation of NK cells in telomeropathies

• Grant number: 25/04657-1
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: May 01, 2025
• End date: April 30, 2026
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Rodrigo do Tocantins Calado de Saloma Rodrigues
• Grantee: Lucca de Souza Berigo Galvão
• Host Institution: Hemocentro de Ribeirão Preto. Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da USP (HCMRP). Secretaria da Saúde (São Paulo - Estado). Ribeirão Preto , SP, Brazil

Abstract

Telomeres are repeated sequences of nucleotides located at the ends of linear chromosomes. Their function is to prevent the loss of genetic information due to shortening of the lagging strand during DNA replication. Functional alterations that compromise telomeric elongation or cause accelerated erosion imply serious clinical repercussions for individuals affected by these diseases, called telomeropathies. NK cells participate in the innate cellular immune response, promoting the death of target cells through the release of enzymes or the induction of apoptosis. Throughout the maturation process, quantitative and qualitative changes occur in the set of molecules expressed by each developing NK cell. Changes in cell count, level of maturation, degree of cytolytic activity and degranulation capacity of NK cells have been described in certain hereditary bone marrow failures. Furthermore, telomeric shortening was observed in NK cells from patients with dyskeratosis congenita, a disease considered a prototype of telomeropathies. The aim of this study is to perform a functional and phenotypic evaluation of NK cells in patients diagnosed with telomeropathies, using flow cytometry and co-culture with K562 cells.