A protein is scrutinized to better understand and treat telomeres

Telomeres are structures that are essential to the functioning of cells and in particular cell multiplication. When they malfunction, this is what causes diseases. On both sides of the Atlantic, researchers are working to better understand and treat them.
Arturo Londono

RTEL1 is a protein that's essential to the biology of telomeres, these structures located at the extremity of chromosomes, and which are vital to the copying of DNA, which is needed prior to cell division. Gene mutations that produce this protein have been associated with malfunctions of these telomeres, which lead to diseases such as dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome or pulmonary fibrosis.

A team from the National Cancer Institute in the USA has built one of the world's largest cohorts of patients suffering from these diseases. At the same time, Arturo Londoño-Vallejo and his colleagues at Institut Curie have studied the cells of patients with these diseases and mutations of the RTEL1 gene. They discovered malfunctions affecting a number of genes.

Thanks to a 150,000 euro grant from Institut Curie and the same amount from the National Cancer Institute, researchers now have two years in which to better characterize these variations and understand which genetic mutations lead to which types of malfunction. In the long term, this information may help identify the molecular signatures of these diseases to improve their diagnosis and outlook.

This project will also be an opportunity to develop new shared bioinformatics tools which will then benefit the entire community of both organizations.