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EPG5 gene Errors Linked to Both Rare Neurodevelopmental Condition‍ and Parkinson’s Disease

Errors in a gene known to cause a serious neurodevelopmental condition in infants‌ are also linked to the development of Parkinson’s disease in adolescence and ‌adulthood,according to new research.

The ⁢study, published in the Annals of Neurology,‌ looked at a gene called EPG5. Errors in this gene are⁤ already‍ known ⁤to ‌cause Vici syndrome – a rare and severe inherited neurodevelopmental condition that presents early in life and⁤ affects ​multiple organ​ systems. Now ⁤researchers at King’s College ⁤London,​ University College London (UCL), the University​ of Cologne and the ‌Max Planck Institute for Biology ‌of Ageing ​have found that‍ errors in the same gene are linked to changes in‌ nerve cells ‍that lead to more common age-related conditions like Parkinson’s⁢ disease and dementia.

Professor Heinz Jungbluth, ⁤Professor⁢ of ​Pediatric Neurology at King’s College London⁢ and lead and co-senior author of the study, said: “This research, supported‍ by patient organisations, was prompted by our earlier observation of an​ apparent increased⁢ Parkinson’s disease ‍risk ⁤in relatives of⁤ children with Vici‍ syndrome, after our team at King’s had found EPG5 to‌ be a driver of this condition.

“Our work shows that, whilst rarely considered a priority, research into (ultra)rare conditions ‍such as Vici syndrome (where fewer than 10 children are currently known‌ to have the condition in⁤ the UK) may provide vital insights into much⁢ more common ⁤disorders and have⁤ substantial public health benefits.

“Understanding ⁢the causes of these ⁤devastating and ofen life-limiting diseases is essential for therapy development and thus offers hope for patients and their families.”

Understanding the Study ⁤and its ‌Findings

In the⁣ largest study of its‍ kind ⁣to‍ date, the ⁤team of scientists analysed clinical and genetic data from 211 ​individuals from across the world with rare errors in ‌ EPG5. They found that the ⁤effects of these genetic errors are broader and more variable than previously known – while some individuals ‌had life-limiting forms⁢ of Vici syndrome identified before or shortly after birth, others⁤ showed‌ much milder symptoms,⁢ including delay in movement, speech,‌ and learning.

The researchers also discovered that some of the patients included in the study went ⁤on to develop a breakdown‌ of nerve cells in adolescence or early adulthood that led to Parkinson’s disease ‍and dementia. ⁢Brain scans analysed in certain specific cases ⁣showed additional iron build-up ⁢in the brain, a feature