Increasing levels of a protein in FA may be potential future therapy – Ataxia

Increasing levels of a protein in FA may be potential future therapy

Increasing levels of a protein in FA may be potential future therapy

A study recently published in the journal ‘Human Molecular Genetics’ has demonstrated that increasing levels of a protein called GRP75 might be an effective future treatment approach in Friedreich’s ataxia (FA) patients. FA is most commonly caused by GAA trinucleotide repeats in the FXN gene which codes for the protein frataxin. A small number of cases may be caused by a different kind of mutation called a ‘compound heterozygous point mutation.’ This involves a point mutation in one gene copy, and an expanded GAA repeat in the other.

The experiments were performed in mice and in cells taken from people with FA. The study found that GRP75 directly interacts with frataxin. It also eliminates frataxin deficiency and certain cellular abnormalities in FA patient derived cells. 

The researchers concluded in their paper: ‘As GRP75 levels are decreased in multiple cell types of patients, restoring GRP75 might be effective in treating both typical patients with two GAA repeat expansions and compound heterozygous patients with point mutations.’

To view the abstract please click here.

Posted on 25/01/2019


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