Genetic Mutations in Parkinson's Disease | 2019 Udall Center Research Symposium
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- čas přidán 7. 08. 2024
- LRRK2 is the most common cause of genetic Parkinson's disease, making it one of the most prominent targets for treatment. And while the protein contributes to Parkinson’s disease in some people, it actually protects against conditions like Crohn’s disease and certain cancers. Dr. Valina Dawson of Johns Hopkins explains the latest in Parkinson's research. #ParkinsonsDisease #JohnsHopkins
Learn more about Parkinson’s disease and movement disorders treatment at Johns Hopkins: www.hopkinsmedicine.org/neuro... - Věda a technologie
Thank you so much Dr,
I have learned a lot, the lecture gave me a good understanding of PD. I was looking for how mutation of LRRK2 causes the damage of mitochondrial DNA leading to PD. You made my day, actually, I learned more than enough.
Wish you a long life and more success in your path.
3:00 autosomal recessive PD (ARPD) genes & their functions
3:26 interaction of ARPD genes - 'linked in circuits' - leading to inactivation of Parkin & activation of PARP1 resulting in death of neurons
4:56 autosomal dominant - point mutations in alpha synuclein which facilitate its misfolding; a- syn can be duplicated or triplicated
6:00 VPS 35 - vacuolar sorting protein
6:54 LRRK2 - sporadic PD - spontaneous mutations occur at high frequency - 1-7% of PD patients of European origin and 20-40% of PD in Ashkenazi Jews and North African Arabs *(why the higher rate of this specific mutation in these populations?)*
8:33 LRRK2 is expressed in tissues throughout the body and
9:02 LRRK2 plays an important role in immune function - inflammatory bowel disease, Crohn's disease, Leprosy
9:38 LRRK2 'day jobs' - normal function (as opposed to 'dirty deeds' - gain or loss of function mutations)
12:54 LRRK2 highly expressing in ribosome
13:47 LRRK2 phosphorylated ribosomal protein S15
15:41 RNA translation and protein synthesis in PD
18:18 Pathways of neurodegeneration in Parkinson's - nice slide summarizing PD pathogenesis - mitochondrial dysfunction
19:10 clinical trials
19:25 clinical pipeline
Thank you Doctor, It is a very good lecture. I thank you and your husband and others who are working on this.
This is so informative thx. My Father had PD his Brother had Pd with dementia . I also have PD.
Interesting that it occured so often. At which age did you get diagnosed?
I don't have Parkinson's, but I FKed up my brain so badly with dopaminergic stimulants that I now have to take rasagiline and other Parkinsonian drugs as a preventive measure. I probably killed half of all my dopamine-producing neurons from abusing amphetamines, coke, methylphenidate, etc. What can I do, I just love being high way more than I do being normal. Now I am done for.
Get yourself under the care of a great psych dr and a counselor and stay off mind altering substances from now on just seems prudent. I am not a dr, but it makes sense to stop abusing your body in seeking an unnatural high from drugs and other substances. Time to do the work to save your life!
Eat a nutritious diet, get lots of excercise to get your endorphins built up. Be careful using supplements. Avoid things like street drugs, weed, herbal junk, bath salts, etc, etc. Even alcohol.
It is going to take a long time for you to get better but you have nothing to lose by cleaning up and getting sober. Look for things in life to work for, set goals, and do lots of self care. Look into dbt therapy to help you learn things like mood regulation, healthy distractions, mindfulness, and such.
You can do this. Surround yourself with supportive people and stay aeay from people who are bad influences in your journey towards sobriety and healing from the damages caused by your drug abuse and poor decision making.
It is never to late to turn your life around, but you have to do the work. I hope this advice helps you or others. I hope you are able to find solace and more healing in time. The body is an amazing thing and can heal from all sorts of trauma. There is hope. Hugs. I hope you see this message.
17:17
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