Molecular causes of rare neurological condition revealed

Molecular defects that cause a rare developmental brain condition in children have been identified for the first time by British researchers.

A team led by the University of Portsmouth and University College London, UK, uncovered the role of malfunctioning acyl-CoA-binding domain-containing protein 6 (ACBD6) in Autosomal Recessive ACBD6-related disorder. The disease is characterised by delays in the development of cognitive and motor skills and is associated with dystonia and parkinsonism.

Dr Reza Maroofian, Dr Rauan Kaiyrzhanov and Professor Henry Houlden, of UCL, investigated the role of ACBD6 as it was unknown what the implication of defects in this protein were. The findings are published in Brain.

They used advanced genomic technologies and extensive global data sharing, with 89 clinicians and scientists from 72 institutes involved worldwide, to investigate 45 affected individuals from 28 unrelated families. They also extended their study to include animal models and this multifaceted approach uncovered evidence highlighting the essential role of ACBD6 in maintaining a healthy nervous system.

Co-lead author Dr Kaiyrzhanov said: “The direct and immediate impact of this study is by introducing these genetic disorders to the medical community will help to diagnose the families affected by this condition worldwide.

“However, the long-term and wider effect of this study is that this ultra-rare condition can help us better understand the biology of these conditions in humans and advance our knowledge of biological mechanisms linked to much more common neurodegenerative movement disorders, like Parkinson’s disease and dystonia.”

Co-author Professor Matt Guile, professor of developmental genetics at the University of Portsmouth added: “We are delighted to contribute to this important piece of new research which will help improve the lives of patients and their families. This is part of our wider work to discover how Xenopus tadpoles can be used to support the diagnosis of rare genetic diseases.”

Kaiyrzhanov R, Rad A, Lin S-J et al.Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain November 2023


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