Natasha Hunt, chair of the Zellweger UK Charity, visited the University of Exeter with husband Matt and son Harvey to talk about the ZUK charity she co-founded, and day-to-day life with her son Cameron, who was one of the oldest Zellweger patients in the UK. Zellweger syndrome disorders are severe peroxisome biogenesis disorders with very limited treatment options. As in previous years, Natasha gave a fascinating and emotional talk to undergraduate students as part of a patient-centred session within module BIO3086 on Cell Biology of Disease, which was very much appreciated by both the students and the Schrader research team. Thank you again Tash!
A new study led by Dr Reza Maroofian, Dr Rauan Kaiyrzhanov and Professor Henry Houlden from UCL Queen Square Institute of Neurology, and involving the Schrader research team, has identified the molecular defects underlying a complex developmental brain condition in children.
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. |
Michael Schrader
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December 2023
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