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.

Fields of science

• medical and health sciences › basic medicine › physiology › pathophysiology
• natural sciences › biological sciences › biochemistry › biomolecules › proteins
• natural sciences › biological sciences › genetics › mutation

Programme(s)

• H2020-EU.1.3. - EXCELLENT SCIENCE - Marie Skłodowska-Curie Actions Main Programme
• H2020-EU.1.3.2. - Nurturing excellence by means of cross-border and cross-sector mobility

Topic(s)

• MSCA-IF-2020 - Individual Fellowships

Call for proposal

H2020-MSCA-IF-2020

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Funding Scheme

MSCA-IF - Marie Skłodowska-Curie Individual Fellowships (IF)

Coordinator

UNIVERSITAT AUTONOMA DE BARCELONA

Net EU contribution

€ 172 932,48

Address

Edif A Campus De La Uab Bellaterra Cerdanyola V
08193 Cerdanyola Del Valles
Spain

Region

Este › Cataluña › Barcelona

Activity type

Higher or Secondary Education Establishments

Links

Other funding

€ 0,00