Transthyretin amyloidosis (ATTR) is a rare, progressive and highly aggressive degenerative disease. It is caused by the misfolding of a specific protein, leading to its toxic accumulation in the form of filamentous deposits in various organs. Researchers at the University of Geneva (UNIGE), in collaboration with the Università della Svizzera Italiana (USI), have succeeded for the first time in determining the three-dimensional structure of abnormal protein deposits from a skin biopsy of a living patient. This breakthrough opens the door to earlier, less invasive diagnosis, potentially accessible to a much larger number of patients and applicable to other diseases. The study is published in Nature Communications.
ATTR amyloidosis is a rare, acquired or hereditary genetic disease, characterized by…