New Genetic Brain Disease Discovered

Wednesday, October 30, 2019 - 15:01

Researchers of University of Manchester have recently discovered a genetic brain disease which can cause paraplegia and epilepsy in sufferers.

According to the university’s official website, hereditary spastic paraplegias (HSP) are a group of genetic disorders that cause weakness and stiffness in the leg muscles.

Changes in several genes are known to cause HSP. However, the underlying cause in a substantial number of patients remains unknown. Currently, there is no cure for HSP.

Via human genetic studies and international collaboration, teams in Manchester and Amsterdam worked together to identify a new cause of HSP. They found that this disease is caused by mutations in a gene called PCYT2, which caused the gene to be less active.

The researchers studied the effects of the condition using zebrafish and cell samples from patients with the disease.

They found that zebrafish with normal or reduced PCYT2 activity had significantly better survival rates than those with absent PCYT2 activity, leading Dr Siddharth Banka – Clinical Senior Lecturer at The University of Manchester and Consultant Clinical Geneticist at Manchester University NHS Foundation Trust (MFT) – and his colleagues to conclude that complete loss of PCYT2 activity is likely to be, ’incompatible with life in vertebrates’.

A team in Amsterdam was also able to identify abnormal biochemical signatures in the cells and blood of the patients who donated samples. It is hoped that these signatures could be used as markers to help diagnose patients with the condition.

It is thought that studying this crucial gene will help in understanding other types of HSP and other neurodegenerative diseases. The paper was published in the neurological journal Brain.


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