Project: Immune signature in telomeropathies
A telomere is a region of repetitive nucleotide sequences at each end of a chromosome. Their job is to stop the ends of our chromosomes from fraying or sticking to each other, much like the plastic tips on the end of shoelaces.
They also play an important role in ensuring our DNA is properly copied when cells divide. However, each time a cell divides, the telomere shortens. A cell can no longer divide when telomeres are too short. This causes the cell to become inactive, to slowly accumulate damage that it can't repair, or to die.
Germline mutations in telomeres are associated with abnormal telomere shortening. This results in bone marrow failure (aplastic anaemia) and the failure of other organs, such as the lungs or liver. This can then lead to pulmonary fibrosis in the lungs or cirrhosis (so-called 'inherited telomeropathies') in the liver.
Professor Judith Marsh from the King’s College Hospital has been working with the University of São Paulo to better understand patients with telomere diseases at the molecular level, such as those with bone marrow failure, pulmonary fibrosis and cirrhosis.
By joining the two cohorts of patients from each institution, they are able to immunologically characterise the patients. Using methods like mass cytometry (CyTOF), flow cytometry and cytokine analysis helps them to determine the immunologic signature of their lymphocytes in each phenotype of the patient.