A novel gene in neurodegenerative disease

The present application relates to the field of neurodegenerative diseases, particularly Parkinson's disease (PD), most particularly early-onset PD. Using whole genome sequencing in familial early-onset PD,a novel recessive gene could be identified: ATP10Bencoding a lysosomal phosphatidylcholine (PC) lipid flippase. Determining expression of this gene, or the presence of mutations in this gene, may be used in diagnosis of neurodegenerative disease. Furthermore, restoring or increasing expression levels or function of ATP10B is envisaged as therapy.

Octrooi-publicatienummer: WO2016166373

Jaar aanvraag: 2016

Jaar toekenning: 2017

Jaar van publicatie: 2016

Status: Aangevraagd

Technologiedomeinen: Analyse van biologische materialen, Biotechnologie

Gevalideerd voor IOF-sleutel: Ja

Toegewezen aan: Associatie KULeuven, Associatie Universiteit & Hogescholen Antwerpen