Diagnosis and treatment of Huntington’s and other diseases could be improved through novel pathology

University of Bristol scientists have discovered a novel pathology occurring in several human neurodegenerative diseases including Huntington’s disease.

An article published in the Brain Pathology journal describes how SAFB1 expression occurs in both spinocerebellar ataxias and Huntington’s disease.

SAFB1 may be a common marker of these conditions, having similar genetic background.

SAFB1 is said to be an important protein in controlling gene regulation in the brain.

It is similar in structure to other proteins associated with neurodegenerative diseases of age.

The University of Bristol’s Translational Health Sciences team wanted to find out if the protein might be associated with certain neurodegenerative conditions.

According to the University of Bristol:

‘The researchers analysed SAFB1 expression in the post-mortem brain tissue of spinocerebellar ataxias (SCA’s), Huntington’s disease (HD), Multiple sclerosis (MS), Parkinson’s disease patients and controls.  

‘They found that SAFB becomes abnormally expressed in the nerve cells of brain regions associated with SCA and HD.  

‘Both of these conditions are associated with a specific pathology, called a polyglutamine expansion (an amino acid repeat), which only occurs in SCAs and HD.

‘The same pathology was therefore not seen in control Parkinson’s disease or multiple sclerosis.’

James Uney, Professor of Molecular Neuroscience at the University of Bristol and lead author of the paper said:

“These novel findings highlight a previously unknown mechanism causing disease which, importantly, suggests SAFB1 may be a diagnostic marker for polyglutamine expansion diseases, such as HD.

“We were also able to demonstrate how SAFB1 binds the SCA1 gene with the disease causing polyglutamine expansion (which causes spinocerebellar ataxia 1).

“As well as identifying a possible diagnostic marker, these findings open up the possibility of developing new therapeutic treatments for these rare but devastating neurodegenerative diseases.

“The next step is to establish whether inhibiting SAFB1 expression protects patients.”

Professor Uney said there was scope in the future to broaden the study to include other diseases, such as Alzheimer’s, disease.