Protein droplets may cause many types of genetic diseases: Research - Times of India
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BERLIN: Most proteins are found in separate protein-rich droplets called "cellular condensates" in cells. These proteins carry sequence characteristics that serve as address labels, informing the protein which condensates to move into. Proteins may wind up in the wrong condensate if the labels are messed up. According to a multinational team of clinical medicine and fundamental biology researchers, this could be the source of many unresolved disorders . The findings were published in the journal Nature. Patients with BPTA syndrome have characteristically malformed limbs featuring short fingers and additional toes, missing tibia bones in their legs and reduced brain size. As the researchers found out, BPTAS is caused by a special genetic change that causes an essential protein to migrate to the nucleolus, a large proteinaceous droplet in the cell nucleus. As a result, the function of the nucleolar condensate is inhibited and developmental disease develops. ...