DESIGN OF HYPOXIA STRATEGY AS A TREATMENT OF FRIEDREICH’S ATAXIA

DESIGN OF HYPOXIA STRATEGY AS A TREATMENT OF FRIEDREICH’S ATAXIA, Unpublished paper, José Luis García Giménez, Abstract "Premi Científico-Tècnic Ciutat d’Algemessí.", 2012


Friedreich’s ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness, speech problems to heart disease. There is currently no effective treatment for Friedreich’s ataxia. However, many of the symptoms accompanying complications can be treated to help patients maintain optimal functioning as long as possible. There are possible treatments for the different symptoms. For example, diuretic and antiarrhythmic drugs to treat the cardiomyophaty can be used.
Drugs such as recombinant human erythropoietin (rHuEPO) have shown the capability to increase frataxin levels in primary fibroblasts cell cultures derived from Friedreich’s ataxia patients (Acquaviva F. et al. 2008). Clinical pilot trials using rHuEPO in FRDA patients indicate that frataxin levels increase, while indicators of oxidative stress decreased significantly (Boeschs S., et al. 2008). But the use of rHuEPO could have various contraindications depending on the nature of each individual. Specially, rHuEPO is a prohibitively expensive treatment, restrictive for FRDA patients and very expensive for public administrations.
We propose a novel method set in the hypoxia as a "non-invasive" and “easy to use” treatment for Friedreich's ataxia. This protocol should cover different fronts of the disease. It may stimulate the expression of endogenous erythropoietin and consequently the expression of frataxin, the molecular cause of the FRDA.
Therefore, hypoxia is presented as a therapeutic tool that can improve the physiopathological features of the disease because it can stimulate the expression of endogenous EPO, a glycoprotein hormone that it has shown beneficial effects in Friedreich’s ataxia.