Function of gene mutations linked to neurological diseases identified

August 10, 2018, Yale University
VPS13 family members mediate lipid transfer between organelles at membrane contact sites. Bottom left: fluorescence image shows the localization of VPS13C (magenta) at contacts between the ER (green) and a lysosome (blue). Bottom right: fluorescence image showing the localization of VPS13A (magenta) at contacts between the ER (green) and a mitochondrion (blue). Credit: Yale University

Several gene mutations have been linked to Parkinson's disease, but exactly how and where some of them cause their damage has been unclear. A new Yale study, published in the Journal of Cell Biology, shows that one of the genes whose mutations are responsible for a familial form of Parkinson's encodes a protein that controls the transfer of lipids between membranes of cell organelles.

The labs of Yale's Pietro De Camilli and Karin Reinisch investigated the role of VPS13 proteins whose dysfunction play a role in a variety of neurological disorders, including Parkinson's. They found that VPS13 proteins can extract lipids from cellular membranes, harbor them in a waterproof cavity, and transfer them to adjacent membranes. VPS13 are localized at sites within the cell where organelles are in close proximity to each other—so-called contact sites—and function as tethers between them making lipid transfer more efficient.

VPS13 family members operate at different sites within the cell and are associated with different neurological disorders. VPS13C, the protein associated with Parkinson's disease, acts at contacts between the endoplasmic reticulum (the organelle where most lipids are synthesized) and endosomes/lysosomes (the organelles where most cell components are degraded). Another, VPS13A, is associated with a Huntington's-like syndrome (Chorea-Acanthocytosis) and acts at contacts between the and mitochondria, the energy centers of the cell.

As other Parkinson's disease genes also encode proteins of the endo-lysosomal system, the new insight may help identify shared cellular mechanisms in Parkinson's disease resulting from mutations in different genes and thus help design new therapies for this condition, the authors say. Nikit Kumar and Marianna Leonzino of Yale are first authors of the study.

Explore further: Molecular aid to insulin secretion identified

More information: Nikit Kumar et al. VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites, The Journal of Cell Biology (2018). DOI: 10.1083/jcb.201807019

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Anonym807763
1 / 5 (1) Aug 14, 2018
At 60 i was diagnose of PARKINSONS DISEASE, i was on Carbidopa and Pramipexole for two years, they helped alot but not for long. As the disease progressed my symptoms worsened, with my neurologist guidance i started on natural alternative PARKINSONS DISEASE treatment from R.H.F. (Rich Herbs Foundation), the treatment worked very effectively, my severe symptoms simply vanished, i feel better now than I have ever felt and i can feel my strength again. Visit ww w. richherbsfoundation. c om. My neurologist was very open when looking at alternative medicines and procedures, this alternative parkinson disease treatment is a breakthrough.
Anonym578175
not rated yet Aug 16, 2018
The love of my life for the last 17 years was diagnosed with Parkinson's disease nearly 4 years ago, at age 52. He had a stooped posture, tremors, muscle stiffness, horrible driving skills, and slow movement. He was placed on Sinemet 50/200 at night for 7 months and then Sifrol and rotigotine were introduced which replaced the Sinemet but he had to stop due to side effects. He started having hallucinations, lost touch with reality. Suspecting it was the medications I took him off the Siferol (with the doctor's knowledge) In March this year his primary physician suggested we started him on Natural Herbal Gardens Parkinson's Herbal formula which eased his anxiety a bit, i'm happy to report this PD herbal treatment worked very effectively. His Parkinson's is totally under control, he had a total decline in symptoms, the tremors, shaking, stiffness, slow movement and speech problems stopped. Visit Natural Herbal Gardens official web page ww w. naturalherbalgardens. c om

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