The Team
  • Researchers

    Nicolas CHARLET BERGUERAND

  • Post-Doctoral Fellows

    Chantal SELLIER

  • Phd Students

    Camille CORBIER

    Michel NEY

  • Engineers & Technicians

    Marie-Christine FISCHER

    Angeline GAUCHEROT

    Véronique PFISTER

  • Trainee

    Sripada LAKSHMI

    Thomas LUTZ

Translational medicine and neurogenetics

RNA diseases

The RNA gain-of-function diseases are a novel class of human genetic disorders in which expansion of repeated nucleotides are toxic at the RNA level. These diseases include Congenital and Adult type 1 and 2 Myotonic Dystrophies (DM), Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS), Spinocerebellar Ataxia 10 (SCA10) and possibly SCA12 and Huntington's disease-like type 2. These autosomal dominant genetic diseases are caused by expanded tri-, tetra- or penta-nucleotide repeats that are transcribed but are not exported, and accumulate in pathogenic nuclear RNA aggregates that sequester specific RNA-binding proteins, leading to molecular changes ultimately resulting in the pathological symptoms.

 

While the general paradigm of these diseases is now established, very little is known on the detailed molecular mechanisms involved in these disorders. Our goal is to elucidate the molecular causes of CGG, CUG, CCUG and AUUCU RNA toxicity in FXTAS, DM1, DM2 and SCA10 patients, respectively. We are particularly focusing on the RNA binding proteins sequestered by these repeats and the cellular consequences of such sequestration.

Imprimer Envoyer

Université de Strasbourg
INSERM
CNRS

IGBMC - CNRS UMR 7104 - Inserm U 964
1 rue Laurent Fries / BP 10142 / 67404 Illkirch CEDEX / France Tél +33 (0)3 88 65 32 00 / Fax +33 (0)3 88 65 32 01 / directeur.igbmc@igbmc.fr