(Press-News.org) Contact information: Cathy Yarbrough
cyarbrough@ascb.org
858-243-1814
John Fleischman
jfleischman@ascb.org
American Society for Cell Biology
Overworked cellular machines may explain Gaucher disease link to Parkinson's disease
Dopamine-producing cells die as result of cascade triggered by busy enzyme degradation cellular machines
Scientists have identified the biological pathway that explains Gaucher disease (GD) patients' higher risk for developing Parkinson's disease (PD), according to research to be presented Tuesday, Dec. 17, at the American Society for Cell Biology annual meeting in New Orleans.
GD is a hereditary disease in which the genes that encode the enzyme glucocerebrosidase are mutated, resulting in a life-threatening build-up of lipids, fatty substances, in cells. Previous studies have found that individuals born with two recessive GD gene mutations have a higher risk of developing PD than those with normal genes for the glucocerebrosidase enzyme. Even individuals who carry the GD mutation but who have no overt symptoms of the lipid storage disease have a higher risk for developing PD.
Mia Horowitz, Ph.D., and Galit Maor, Ph.D., of Tel Aviv University in Israel have built an accurate laboratory model in the fruit fly, Drosophila melanogaster, that traces the link between GD and PD through accumulations of defective copies of the enzyme. Their fruit fly with the mutated genes is the first animal model of GD with PD-like symptoms, according to the researchers.
Since the normal job of glucocerebrosidase is to chop up certain lipids, it might be expected that GD carriers would accumulate these lipids, but this is not the case, the researchers said. Instead, the problem seems to be caused by accumulation of the defective enzyme itself, leading to the activation of cellular machines that dispose of defective proteins. When these enzyme degradation machines get too busy, they can trigger a cascade that leads to cell death.
The death of specific cells in the brain, named dopaminergic cells, leads to development of PD. Dr. Horowitz hypothesized that this cell death cascade is the link to PD. Using the easily re-engineered fruit fly, Drs. Horowitz and Maor created a laboratory model of carriers of GD mutations to test their idea.
They mutated the GD enzyme, glucocerebrosidase, in a subset of neurons in the fruit flies. With defective glucocerebrosidases, the flies began losing their dopamine-generating neurons, a classic symptom of PD. Also, the fruitflies' reduced climbing ability is the fly equivalent of Parkinsonian hypokinesis, the characteristic movement "freeze-up" of patients with PD.
The fly model, said Dr. Horowitz, lends support to the idea that GD and PD are related through the pathways triggered by the accumulation of defective proteins, a cascade that leads to dopaminergic cell death.
###
CONTACT:
Mia Horowitz, Ph.D.
Tel Aviv University
horwitzm@post.tau.ac.il
+972-3-6409285
ASCB PRESS CONTACTS:
John Fleischman
jfleischman@ascb.org
513-706-0212
Cathy Yarbrough
Cyarbrough@ascb.org
858-243-1814
The author will present, "The connection between UPR, Gaucher Disease, and Parkinson's disease," on Tuesday, Dec. 17, during the 12 noon to 1:30 p.m. poster session, "Aging and Aging Associated Degeneration."
Co-authors:
G. Maor and D. Segal, Tel Aviv University; H. Steller, Rockefeller University, New York, NY; and M. Horowitz, Tel Aviv University.
Overworked cellular machines may explain Gaucher disease link to Parkinson's disease
Dopamine-producing cells die as result of cascade triggered by busy enzyme degradation cellular machines
2013-12-17
ELSE PRESS RELEASES FROM THIS DATE:
Injured nerves regrow when fidgetin enzyme is suppressed
2013-12-17
PUBLIC RELEASE DATE: 17-Dec-2013
[
| E-mail
]
var addthis_pub="eurekalert"; var addthis_options = "favorites, delicious, digg, facebook, twitter, google, newsvine, reddit, slashdot, stumbleupon, buzz, more"
Share
Contact: Cathy Yarbrough
cyarbrough@ascb.org
858-243-1814
John Fleischman
jfleischman@ascb.org
American Society for Cell Biology
Injured nerves regrow when fidgetin enzyme is suppressed
Fidgetin inhibition: Potential new therapeutic approach to promote tissue regeneration & repair of broken cell connections
Suppressing the enzyme ...
Discovery of 'teen gene' could hold promise for combating severe mental illnesses
2013-12-17
Discovery of 'teen gene' could hold promise for combating severe mental illnesses
Gene involved in adolescent brain development may play a role in mental health vulnerability
As many parents of mentally ill adults ...
Epidemic of Escherichia coli infections traced to 1 strain of bacteria
2013-12-17
Epidemic of Escherichia coli infections traced to 1 strain of bacteria
Fast-evolving lethal clone spreads worldwide, according to new study published today
WASHINGTON, D.C., and FLAGSTAFF, Ariz. — Dec. 17, ...
New hope for stem cells, regenerative medicine emerges from the lab
2013-12-17
New hope for stem cells, regenerative medicine emerges from the lab
VIDEO:
This is the JoVE video article, "In vivo Reprogramming of Adult ...
MRSA strain gained dominance with help from skin bacteria
2013-12-17
MRSA strain gained dominance with help from skin bacteria
Scientists believe they have an explanation for how the most common strain of methicillin-resistant Staphylococcus aureus (MRSA) rapidly rose to prominence. Research published in mBio®, the online open-access ...
Massive stars mark out Milky Way's 'missing' arms
2013-12-17
Massive stars mark out Milky Way's 'missing' arms
A 12-year study of massive stars has reaffirmed that our Galaxy has four spiral arms, following years of debate sparked by images taken by NASA's Spitzer Space Telescope that only showed two arms.
The new research, ...
Feinstein Institute researchers show a genetic overlap in schizophrenia and cognitive ability
2013-12-17
Feinstein Institute researchers show a genetic overlap in schizophrenia and cognitive ability
MANHASSET, NY – Investigators at The Feinstein Institute for Medical Research have discovered for the first time, direct evidence of a genetic overlap ...
Radioactivity muddles the alphabet of DNA
2013-12-17
Radioactivity muddles the alphabet of DNA
Curtin University researchers have shown natural radioactivity within DNA can alter chemical compounds, providing a new pathway for genetic mutation.
The research, recently published in Biochimica et Biophysica Acta-General ...
Infrared sheds light on single protein complexes
2013-12-17
Infrared sheds light on single protein complexes
Proteins are basic building blocks of life. The chemistry and structure of proteins are essential for their biological function. Indeed, the structure of proteins determines their mechanical and catalytic ...
A new conceptual configuration for air-breathing hypersonic airplanes
2013-12-17
A new conceptual configuration for air-breathing hypersonic airplanes
How to design a hypersonic airplane that travel from Beijing to New York in only two hours? Dr. Cui Kai and his group from State Key Laboratory of High Temperature Gas Dynamics, Institute of Mechanics, ...
LAST 30 PRESS RELEASES:
Thirty-year mystery of dissonance in the “ringing” of black holes explained
Less intensive works best for agricultural soil
Arctic rivers project receives “national champion” designation from frontiers foundation
Computational biology paves the way for new ALS tests
Study offers new hope for babies born with opioid withdrawal syndrome
UT, Volkswagen Group of America celebrate research partnership
New Medicare program could dramatically improve affordability for cancer drugs – if patients enroll
Are ‘zombie’ skin cells harmful or helpful? The answer may be in their shapes
University of Cincinnati Cancer Center presents research at AACR 2025
Head and neck, breast, lung and survivorship studies headline Dana-Farber research at AACR Annual Meeting 2025
AACR: Researchers share promising results from MD Anderson clinical trials
New research explains why our waistlines expand in middle age
Advancements in muon detection: Taishan Antineutrino Observatory's innovative top veto tracker
Chips off the old block
Microvascular decompression combined with nerve combing for atypical trigeminal neuralgia
Cutting the complexity from digital carpentry
Lung immune cell type “quietly” controls inflammation in COVID-19
Fiscal impact of expanded Medicare coverage for GLP-1 receptor agonists to treat obesity
State and sociodemographic trends in US cigarette smoking with future projections
Young adults drive historic decline in smoking
NFCR congratulates Dr. Robert C. Bast, Jr. on receiving the AACR-Daniel D. Von Hoff Award for Outstanding Contributions to Education and Training in Cancer Research
Chimpanzee stem cells offer new insights into early embryonic development
This injected protein-like polymer helps tissues heal after a heart attack
FlexTech inaugural issue launches, pioneering interdisciplinary innovation in flexible technology
In Down syndrome mice, 40Hz light and sound improve cognition, neurogenesis, connectivity
Methyl eugenol: potential to inhibit oxidative stress, address related diseases, and its toxicological effects
A vascularized multilayer chip reveals shear stress-induced angiogenesis in diverse fluid conditions
AI helps unravel a cause of Alzheimer's disease and identify a therapeutic candidate
Coalition of Autism Scientists critiques US Department of Health and Human Services Autism Research Initiative
Structure dictates effectiveness, safety in nanomedicine
[Press-News.org] Overworked cellular machines may explain Gaucher disease link to Parkinson's diseaseDopamine-producing cells die as result of cascade triggered by busy enzyme degradation cellular machines