Ataxia UK and FARA-funded project into heart disease associated with FA – Ataxia

Ataxia UK and FARA-funded project into heart disease associated with FA

Ataxia UK and FARA-funded project into heart disease associated with FA

Dr Carroll and his team at St George’s University in London have completed a project into a cause of heart disease associated with Friedreich’s ataxia (FA).

People with a different set of conditions, called mitochondrial disorders, develop heart disease similar to that which is seen in FA. In a previous project, this group studied a chains of events (or pathways) occurring in cells, that are involved in the progression of heart disease associated with mitochondrial disorders. The pathways they studied are called the SOG and the transsulfuration pathways. They showed that levels of certain proteins involved in these pathways are increased in the heart and muscle tissue of laboratory mice with mitochondrial disorders.

During this new research project, the team looked at the same pathways in a mouse model of FA. They showed that certain genes involved in the pathways are expressed at higher levels in FA mice compared to mice without FA, at a very early stage of heart disease. Genes contain instructions for how to make protein, so if the expression of a gene increases it might be expected that the expression of the protein would also increase. They showed that this was the case for a protein called MTHFD2.

The results of this study suggest that the SOG and transsulfuration pathways are activated in the early stages of heart disease. The proteins involved in these pathways could therefore represent new therapeutic targets for the treatment of heart disease associated with FA. This could eventually lead to the development of new treatments for cardiac symptoms and heart disease in people with FA.

Posted on 20/09/2019


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