About My Health Careers Internship MedBlogs Contact us
Medindia LOGIN REGISTER
Advertisement

Genetic Mutations Damage Brain Cells in Parkinson's Disease

by Bidita Debnath on March 5, 2013 at 10:54 PM
Font : A-A+

 Genetic Mutations Damage Brain Cells in Parkinson's Disease

In familial Parkinson's disease, scientists have discovered how the most common genetic mutations damage brain cells.

Parkinson's disease is a gradually progressing disorder of the nervous system that causes stiffness or slowing of movement.

Advertisement

The discovery could also open up treatment possibilities for both familial Parkinson's and the more common form of Parkinson's that is not inherited, said researchers at Albert Einstein College of Medicine of Yeshiva University.

The most common mutations responsible for the familial form of Parkinson's disease affect a gene called leucine-rich repeat kinase-2 (LRRK2). The mutations cause the LRRK2 gene to code for abnormal versions of the LRRK2 protein. But it hasn't been clear how LRRK2 mutations lead to the defining microscopic sign of Parkinson's: the formation of abnormal protein aggregates inside dopamine-producing nerve cells of the brain.
Advertisement

"Our study found that abnormal forms of LRRK2 protein disrupt an important garbage-disposal process in cells that normally digests and recycles unwanted proteins including one called alpha-synuclein - the main component of those protein aggregates that gunk up nerve cells in Parkinson's patients," said study leader Ana Maria Cuervo, M.D., Ph.D., professor of developmental and molecular biology, of anatomy and structural biology, and of medicine and the Robert and Renee Belfer Chair for the Study of Neurodegenerative Diseases at Einstein.

The name for the disrupted disposal process is chaperone-mediated autophagy (the word "autophagy" literally means "self-eating"). It involves specialized molecules that "guide" old and damaged proteins to enzyme-filled structures called lysosomes; there the proteins are digested into amino acids, which are then recycled within the cell.

"We showed that when LRRK2 inhibits chaperone-mediated autophagy, alpha-synuclein doesn't get broken down and instead accumulates to toxic levels in nerve cells," said Dr. Cuervo.

The study involved mouse neurons in tissue culture from four different animal models, neurons from the brains of patients with Parkinson's with LRRK2 mutations, and neurons derived from the skin cells of Parkinson's patients via induced pluripotent stem (iPS) cell technology. All the lines of research confirmed the researchers' discovery.

"We're now looking at ways to enhance the activity of this recycling system to see if we can prevent or delay neuronal death and disease," said Dr. Cuervo.

"We've started to analyze some chemical compounds that look very promising," she stated.

Dr. Cuervo hopes that such treatments could help patients with familial as well as nonfamilial Parkinson's - the predominant form of the disease that also involves the buildup of alpha-synuclein.

The study has been published online in the journal Nature Neuroscience.

Source: ANI
Advertisement

Advertisement
News A-Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
News Category
What's New on Medindia
Sensory Processing Disorder (SPD)
First Dose of COVID-19 Vaccines May Improve Mental Health
View all

Medindia Newsletters Subscribe to our Free Newsletters!
Terms & Conditions and Privacy Policy.

More News on:
Parkinsons Disease Parkinsons Disease Surgical Treatment Genetics and Stem Cells Genetic Testing of Diseases Brain Brain Facts Ataxia Gilbertís Syndrome McArdle Disease Christianson Syndrome 

Recommended Reading
Drug Firm to Pay Huge Damages to Parkinsons Disease Sufferer
A French Parkinson's sufferer who turned into a gambler and thief, with compulsive homosexual urges ...
Nose may Hold Key to Parkinson's Cure
A new study from Griffith University suggests that Parkinson's patients' nose may harbour a cure ......
Robot Controlled by Cables may Help in Stroke and Parkinsonís Patients
A unique robotic device has been developed by experts at Florida Atlantic University. This robot ......
Parkinson Disease at a Younger Age Attributed to Gene Abnormality
According to a study published in the September 18, 2007, issue of Neurology, the medical journal .....
Ataxia
Ataxia affects coordination. Gait becomes unstable and the patient loses balance. The cerebellum or ...
Christianson Syndrome
Christianson syndrome is a condition that occurs due to mutations (abnormal changes) in the gene SLC...
Genetic Testing of Diseases
Genetic testing helps to confirm a genetic condition in an individual and involves q complex laborat...
Gilbertís Syndrome
Gilbertís syndrome is a common, mild liver disease in which a liver enzyme required to process bilir...
McArdle Disease
McArdle disease is a genetic disorder in which the body cannot breakdown glycogen in the muscles. It...
Parkinsons Disease
Parkinsonís disease is a neurodegenerative disease caused by progressive dopamine brain cells loss. ...

Disclaimer - All information and content on this site are for information and educational purposes only. The information should not be used for either diagnosis or treatment or both for any health related problem or disease. Always seek the advice of a qualified physician for medical diagnosis and treatment. Full Disclaimer

© All Rights Reserved 1997 - 2021

This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use