Researchers from Lleida make advances to propose new therapies in the treatment of Friedreich's ataxia

The Oxidative Stress Biochemical Research Group, of the University of Lleida (UdL) and the Biomedical Research Institute of Lleida (IRBLleida), is carrying out two projects to better understand Friedreich's ataxia - which is caused by the deficiency of Frataxin, a mitochondrial protein. In addition, to advance in the investigation of this minority disease, the Research Group, led by UdL professor Joaquim Ros, has recently offered a postdoctoral fellowship to incorporate a new person into his team. This fellowship has a duration of one year and will allow studying and better understanding the effects of frataxin deficiency and potential treatments developed by the Group in the last three years and that, therefore, may offer ways to evaluate these drugs in clinical trials. Last year he joined the Group, precisely to study this minority disease, a predoctoral student.

Friedreich's ataxia is a minority disease that affects approximately two people in 100,000 and for which, currently, there is no effective cure. In these projects new therapeutic strategies applicable to the treatment of Friedreich's ataxia are pursued. Today, February 28, the World Day for Minority Diseases is commemorated, including Friedreich's ataxia.

The Oxidative Stress Biochemical Research Group has worked in collaboration with the company BioBlast Pharma (Tel Aviv) and currently works with the company Minoryx Therapeutics, with which they carry out a project of the Ministry -Retos Colaboración- in which they analyze the efficiency of compound MIN-102, which is a PPARg agonist, to treat Friedreich's ataxia. The group also plans to conduct trials with specific compounds derived from vitamin D, which are giving very positive results in cultures of neurons and cardiomyocytes models of the disease. In this context, it should also be noted that the group has received a grant from Rare Genomics Intitute (Los Angeles, USA) thanks to which they have incorporated a mouse model of Friedreich's ataxia with a point mutation in the frataxin gene that leads to the illness. This unique model has been prepared to collaborate with The Jackson Lab (Bar Harbor, USA).

Friedreich's ataxia is characterized by a progressive lack of coordination in movement. The first symptoms tend to appear during preadolescence and it gets worse with age. Normally, before the age of 20, people who have the disease already have to use a wheelchair. It is believed that the deficit of frataxin negatively affects the correct mitochondrial function, generates oxidative stress that, over time, will end up causing cell death. The Lleida research team believes that the alteration of mitochondrial calcium can play a crucial role in the development of the disease.

The Oxidative Stress Biochemical Research Group investigates this minority disease since 2005. In 2011, it obtained a research project from the La Marató Foundation of TV3 (led by Jordi Tamarit); In addition to the projects named above, it also has support from Ataxia UK, the United Kingdom, co-funded by the Association of Catalan Ataxias (ACAH) and a project of the Ministry -Retos- called "Targeting mitochondria in Friedreich ataxia: molecular mechanisms and therapeutic approaches ". The results of the previous projects have provided new data on the mitochondrial alterations that occur due to frataxin deficit. Therefore, in these projects, the proposed objectives seek to find answers to know which are the mechanisms that explain the neurocardiodegenerative effects of frataxin deficiency and what is the capacity of some compounds to reverse these alterations and that can be proposed as treatments of the Friedreich ataxia.

World Day of Minority Diseases

The World Day of Minority Diseases is commemorated on February 28. The objective of this day, promoted by the European Organization of Minority Diseases (EURORDIS), is to raise awareness of rare diseases and position them as a social and health priority. Minor diseases are serious, rare and affect 5 out of every 10,000 people. There are more than 7,000 diseases, 80% of which are of genetic origin. Generally, they involve various organs and affect the physical abilities, mental abilities and sensory and behavioral qualities of the sick. They can appear from birth or childhood, but there are those that do not manifest until adulthood. This year is especially important given that the 2019 edition of La Marató de TV3 is dedicated precisely to minority diseases.

Text: Communication and Press IRBLleida