Researchers from the University of Manchester have discovered the possible cause of a serious genetic disease. It is actually a group of diseases that affect the nervous system, causing paraplegia and epilepsy. It is called hereditary spastic paraplegia and at the moment there is no cure. Thanks to the discoveries made, however, it will be easier to develop treatments.
The diseases that fall under the umbrella of hereditary spastic paraplegia were already known, at least in part. Over the years, researchers have identified several common genetic variants among patients. None of these, however, seemed to be the real cause of the disease, which therefore remained unknown.
A team of researchers from Manchester and Amsterdam worked to identify the real cause of hereditary spastic paraplegia. Thanks to studies on zebrafish and patient samples, they detected an anomaly in the PCYT2 gene. This could be the variant that determines the appearance and severity of the disease. Zebra fish with normal or slightly reduced PCYT2 activity had a good survival rate. In contrast, those with PCYT2 absent or inactive lived little.
The gene encodes an enzyme that produces the lipids that make up cellular membranes, especially those of neurons. When it is missing, the cells deteriorate more quickly and the symptoms described above occur.