Skip to main content

Deciphering cerebellar mitochondrial alterations in Rett Syndrome

Project description

Brain mitochondria in Rett syndrome

Rett syndrome is a rare genetic disorder associated with loss of certain mental and physical abilities. It is caused by mutations in the methyl-CpG binding protein 2 (Mecp2), which binds to methylated DNA and causes transcriptional repression. The working hypothesis of the EU-funded MITORett project is that Mecp2 affects the transcription of mitochondrial genes in the cerebellum, depleting it of ATP and hence energy. Researchers will investigate mitochondrial impairment in the cerebellum in Rett syndrome and in particular which mitochondrial proteins are affected. Results will offer fundamental information on disease pathophysiology and identify novel molecular targets for therapy.

Coordinator

UNIVERSIDAD AUTONOMA DE BARCELONA
Net EU contribution
€ 172 932,48
Address
Calle Campus Universitario Sn Cerdanyola V
08290 Cerdanyola Del Valles
Spain

See on map

Region
Este Cataluña Barcelona
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00