Menu
News in brief

Advances in Friedreich’s Ataxia

19 Feb 2013 | By INSERM (Newsroom) | Genetics, genomics and bioinformatics

Friedreich’s ataxia is a rare, serious and developing neurodegenerative condition that emerges at adolescence. Those affected suffer from difficulties in coordinating voluntary movements (ataxia). This is the commonest of the hereditary ataxias of genetic origin and occurs due to a mutation of the fraxatin gene which causes a protein deficiency.

The team headed by Alexandra Henrion Caude, responsible for INSERM research in the 781 Mixed Unit known as “Genetics and epigenetics of metabolic, neuro-sensorial and developmental diseases” (INSERM, Université Paris Descartes) at the Necker Children’s Hospital, explored the possibility that other elements in the gene could contribute to this deficiency, as a way of understanding the disturbed relationship between the gene mutation and the frataxin protein levels measured in certain patients.

The researchers discovered, as shown in the study published recently in the journal Plos One, through research performed in synergy with the French Freidreich’s Ataxia Association (AFAF), that the patients had fraxatin gene variations that were specific to them. They showed the involvement of micro-RNA, especially miR-124, in the regulation of the expression of the frataxin protein. To achieve this result, the researchers analysed data from a cohort of patients suffering from Friedreich’s ataxia, and these were compared with the genetic data from people not suffering from the condition. They confirmed their results via an analysis of a second cohort from the island of Réunion, whose data are particularly interesting for geneticists due to their geographic isolation.

According to the study’s authors, these results promise to produce a more precise genetic profile of patients to improve diagnosis and prognosis. They suggest above all that the inhibition of certain micro-RNAs, especially miR-124, could constitute a route for the development of therapies to restore the deficient protein that appears to be the cause of this serious illness.

This study was the subject of an application to file a patent submitted by Inserm Transfert.

The French Friedreich’s Ataxia Association , the AFAF, has been in existence for more than 30 years. It has 800 members of whom 500 are sufferers. The three main aims of the Association are to stimulate research in partnership with research teams and the Conseil Scientifique since to date there is no cure, improve the care of ataxic patients through information for carers in collaboration with the Conseil Médical et Paramédical, and provide support for patients and their families through meetings, links and especially a psychological support service. More information can be found on the Association’s site

These contents could be interesting :

Medias
Researcher Contact

Alexandra Henrion Caude, PhD

Chargée de recherche Inserm Unité Inserm 781 “Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement”
Département de Génétique Médicale Hôpital Necker-Enfants Malades – Institut Imagine
Tel.: 01 44 49 48 78
rf.mresni@eduac.ardnaxela

Press Contact

Inserm presse
rf.mresni@esserp

Contact association AFAF
Juliette Dieusaert
Présidente de l’AFAF
rf.tendron@treasueidb

Sources

Genetic Variations Creating MicroRNA Target Sites in the FXN 3’-UTR Affect Frataxin Expression in Friedreich Ataxia

Simonetta Bandiera1., Francois Cartault2,3., Anne-Sophie Jannot1., Elie Hatem2, Muriel Girard1,
Laila Rifai4, Clemence Loiseau2, Arnold Munnich1, Stanislas Lyonnet1, Alexandra Henrion-Caude1*
1 INSERM U781 Hopital Necker–Enfants Malades, Universite Paris Descartes-Sorbonne Cite, Institut Imagine, Paris, France,
2 INSERM U781 Hopital Necker–Enfants Malades, Paris, France,
3 Departement de Genetique, Centre Hospitalier Regional de La Reunion, Saint-Denis, La Reunion, France,
4 Department of Medical Genetics, National Institute of Health, Rabat, Morocco

Plos One, 30 janvier 2013

fermer