The journal Nature published a research in Berlin, which shows that most proteins are seen in separate protein-rich droplets called "cellular condensates" in cells. These proteins have address labels on their sequences that tell the protein which condensates it should travel into. If the labels are incorrect, proteins can end up in the incorrect condensate. A multidisciplinary group of clinical medicine and basic biology researchers believe that this may be the cause of many unresolved illnesses.
Patients with BPTA syndrome typically have diminished brain size, short fingers and extra toes, missing tibia bones in their legs, and deformed limbs. The necessary protein must move to the nucleolus, a sizable proteinaceous droplet in the cell nucleus, as the researchers discovered is the cause of BPTAS. Developmental illness results from the nucleolar condensate's activity being hindered.
"Numerous other ailments might benefit from what we learned about this particular sickness. Most likely, it is not a unique, uncommon unicorn. Because we did not know how to look for it, we simply could not observe the phenomenon until now "says Denise Horn, a clinical geneticist at the Charite - Universitatsmedizin Berlin's Institute of Medical and Human Genetics.
The team is pushing open a door to new diagnoses that could lead to the elucidation of numerous other diseases as well as potential future treatments in collaboration with researchers at the University Hospital Schleswig-Holstein (UKSH) and the Max Planck Institute for Molecular Genetics (MPIMG) in Berlin.
Denes Hnisz, Research Group Leader at the MPIMG, claims that "we uncovered a novel mechanism that could be at play in a wide range of diseases, including genetic diseases and cancer." In fact, of the nearly 600 identical mutations that have been found, 101 have been linked to various illnesses.
According to human geneticist Malte Spielmann of UKSH in Lubeck and Kiel, "the actual work is just being started right now." We can now evaluate the method of action of many more genes that have such disease-causing mutations.
The already lengthy disease name "brachyphalangy-polydactyly-tibial aplasia/hypoplasia syndrome" only partially describes the complicated and remarkable deformities that affect affected people's limbs, faces, nervous, and skeletal systems (BPTAS).
The disorder is not only unusual but ultra-rare, according to Martin Mensah, a clinical geneticist at the Institute of Medical and Human Genetics at Charite, with less than ten recorded cases globally. He and his colleagues sequenced the genomes of five people with the condition to determine the reason, and they discovered that each patient had a change in the gene encoding the protein HMGB1.
This protein enhances the interaction of other molecules with the DNA, such as when reading genes, and organises the genetic material in the cell nucleus.