Deciphering the role of alterations in cellular metabolism in the development of amyotrophic lateral sclerosis

Estela Area

  • PROJECT LEADER

    Estela Area

  • HOST ORGANIZATION,
    COUNTRY

    Margarita Salas Center for Biological Research - Spanish National Research Council (CIB-CSIC), Madrid, Spain

  • DESCRIPTION

    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons. Every year, between 1.5 and 2 new cases per 100,000 inhabitants are diagnosed worldwide. Various previous studies have linked certain metabolic defects, such as dysregulation of blood lipid levels and insulin resistance, to the onset of ALS, although the causes and consequences of these alterations and how they contribute to motor function failure are not yet fully understood.

    Previous studies conducted by the project team have shown that metabolic alterations in the motor neurons of ALS patients, from the presymptomatic stages to the appearance of the first symptoms of the disease, occur in the cytoplasm of the cell, in a region called the endoplasmic reticulum, which performs various cellular functions, and specifically in the endoplasmic reticulum membranes associated with mitochondria. In fact, the regulation of fat metabolism takes place in these membranes.

    In this project, researchers will analyse and monitor these metabolic alterations occurring in the endoplasmic reticulum membranes, in animal models as well as in human cells and blood samples from ALS patients. The aim is to elucidate what role these alterations in endoplasmic reticulum membrane function play in the onset of the disease. The knowledge generated will open the door to the possibility of finding new potential therapeutic targets.

  • PARTNER ORGANIZATIONS

    • Manuel Portero-Otin, Biomedical Research Institute of Lleida (IRBLleida-UdL), Spain

    • Carmen Paradas, Instituto de Biomedicina de Sevilla - Hospital Universitario Virgen del Rocío, Spain

    • Aurora Gómez Durán, Center for Research in Molecular Medicine and Chronic Disease (CiMUS) – University of Santiago de Compostela, Spain

  • PROJECT TITLE

    The role of defects in mitochondria-associated ER membranes (MAM) to Amyotrophic Lateral Sclerosis

  • BUDGET

    €500,000.00

    *Award-winning project in collaboration with the Luzón Foundation