Targeting the genetic cause of DRPLA – Ataxia

Targeting the genetic cause of DRPLA

Targeting the genetic cause of DRPLA

We are delighted to announce funding of an exciting project targeting the genetic cause of a rare form of ataxia, to be carried out by Dr Stevanin (image, right) and Dr El-Hachimi (image, left) at ICM in Paris, and Dr Fanto (image, centre) at Kings College London. This project has been made possible by a donation from Andrea and Paul Compton, who have a son affected by DRPLA, and have created a foundation called CureDRPLA.

Dentatorubro-Pallidoluysian Atrophy (also called DRPLA) is a rare form of inherited ataxia that leads to progressive loss of motor control and, in the most aggressive forms, also to epilepsy. There is currently no cure.

DRPLA is caused by a mutation in the Atrophin-1 gene. Genes are a code made up of the letters A, T, G and C. This code contains instructions for how to make proteins. In DRPLA, a section of the code reading ‘CAG’ is mistakenly repeated many times, resulting in the incorrect code for making the protein called Atrophin-1. Production of the incorrect Atrophin-1 protein leads to the symptoms associated with DRPLA.

Targeting the genes that cause genetic conditions, also known as gene therapy, has been gaining a lot of attention in recent years. One form of gene therapy uses molecules called antisense oligonucleotides or ‘ASOs’ which can be designed to prevent a specific gene from being read to make a protein. In this project, the researchers will design ASOs to specifically block the Atrophin-1 gene from being read. They hope this will result in the production of less Atrophin-1 protein.

DRPLA is similar in its genetic cause to Huntington’s Disease (HD). ASOs are currently being tested in people with HD, with preliminary results showing success. We are very pleased that this approach, which is providing hope for people with HD, is now being looked at for DRPLA. A number of spinocerebellar ataxia (SCA) research project are also being carried out using ASOs (see pg. 9).

These researchers will test how effective this treatment is, using a mouse model of DRPLA. The group hopes that at the end of this project, it may be possible to translate this therapy into a clinical trial for DRPLA patients.

Dr Fanto at Kings College London, says: “We are excited to contribute to this project towards a preclinical treatment for DRPLA. We thank Ataxia UK for their support and look forward to starting this work.”

Posted on 17/12/2019


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