Researchers discover new genetic brain disease – The University of Manchester

The gene encodes an enzyme which produces a lipid (a fatty molecule) that is used to build cell membranes in every cell of the body. The lipid produced by the enzyme is particularly abundant in brain cell membranes.

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.

Dr Banka runs a Clinical Genetics clinics at Saint Marys Hospital, which is part of MFT. His research group uses a combination of genomics, clinical and functional studies to identify the cause of disease in patient with unsolved genetic conditions.

Dr Banka said: Saint Marys Hospital is one of the leading NHS and internationally recognised large-scale providers of genomic services. Being able to combine my clinical role at the hospital, with my academic research at The University of Manchester, has been crucial to this outcome.

This link between academia and the NHS means we can translate research from the bench to the bedside, for the benefit of our patients.

The identification of more patients in future will help in better understanding of the effects of HSP.

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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Researchers discover new genetic brain disease - The University of Manchester