Reporting on 17th VPS13 Forum, 29 April 2024
Read about the interesting presentations given at the most recent Forum which took place on 29 April 2024
by Despina Dinca

At the 17th Forum on 29 April 2024, our NA syndromes community was joined by the communities of those interested and affected by Huntington’s Disease (HD), which shares some common ground from research point of view with the neuroacanthocytosis (NA) syndromes.


Dr Xueyi Li, Harvard UniversityDr Xueyi Li, Assistant Professor of Neurology at Harvard Medical SchoolDepartment of Neurology, Massachusetts General Hospital (photo to the right) presented his research investigations on how protein transport can malfunction in neurodegenerative disorders such as HD and Parkinson’s. The study provides a link between Huntingtin and XK (responsible for McLeod disorders). While it appears that the VPS13A and XK interaction is unaltered in HD cells, there are still unknown aspects which remain to be studied in the future.


Professor Bernhard Landwehrmeyer, European Huntington’s Disease Network (EHDN) presentation focused on the alterations in lipid metabolism and lipid composition in HD. A speculative hypothesis looks at the alterations of lipid metabolism in the brain as a shared feature between HD and VPS13A / XK diseases due to the many clinical and pathological aspects they have in common. He also spoke about research in HD mice. This looked at the cholesterol in their brains and found a successful treatment to restore it to the healthy level. However, this is yet to be translated into therapies testable in patients and gene therapy may be a possible way forward. (Professor Landwehrmeyer's photo is to the right below.)


So, keeping in touch and understanding the evolution of the HD research is crucial for collaboration with our NA community of scientists.


Professor Bernhard Landwehrmeyer, European Huntington's Disease NetworkFor those less familiar with our Forums, these are regular online meetings where clinicians, researchers and patients, their families & carers are keeping the conversations going on latest news and updates in the world of NA syndromes.


Although sometimes the scientific discussions may be a bit challenging to follow for the non-medical public, we will make these accessible in lay language as soon as possible after the meeting.  


We publicise the details for joining on our social media channels, so keep an eye out nearer the time of the meeting. Alternatively, you can ask to be included on the Forum’s mailing list by emailing Dr Kevin Peikert.


Next meetings coming up in 2024: 29 July (see the dedicated article included in this newsletter) and 28 October. Mark your calendars now!

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