The researchers investigated the role of a specific regulatory protein in the brain known as acyl-CoA-binding domain-containing protein 6, or ACBD6. Up until now, the implication of defects in this protein have been unknown.
This study, published in Brain journal, uncovered the role of malfunctioning ACBD6 in an ultra-rare condition in children, known as Autosomal Recessive ACBD6-related disorder. This is characterised by delays in the development of cognitive and motor skills and is associated with dystonia and parkinsonism.
The Schrader research team recently discovered that malfunction of ACBD4 and ACBD5, members of the same protein family as ACBD6, can also cause neurological abnormalities. However, we could demonstrate that the cellular localisation and molecular mechanism of ACBD6 is different from ACBD5 malfunction.
More information can be found in the University of Exeter press release here.
The full journal article in Brain can be found here.