Breaking News
April 19, 2018 - Detecting diminished dopamine-firing cells inside brain could reveal earliest signs of Alzheimer’s
April 19, 2018 - Case study shows how intravascular ultrasound imaging helps detect acute aortic syndrome
April 19, 2018 - Research reveals new mechanism by which HIV evades the immune system
April 19, 2018 - Nanodisc-delivered cancer treatment helps eliminate tumors
April 19, 2018 - Functional connectivity MRI could help detect brain disorders and diseases
April 19, 2018 - Finding better way to quantify neuropathy symptoms and treatment efficacy
April 19, 2018 - Study examines effectiveness of caregiver education about sickle cell trait
April 19, 2018 - High-resolution images of tumor vasculature using new technology
April 19, 2018 - Lack of sleep may be linked to risk factor for Alzheimer’s disease
April 19, 2018 - Study finds neurotransmitter may play a role in alcohol relapse, addiction
April 19, 2018 - Researchers build molecular networks of calcific aortic valve disease
April 19, 2018 - Researchers develop highly specific apoptosis assay for pharmacodynamic analyses of tumor specimens
April 19, 2018 - Scientists decipher mechanism of chemotherapy induced female infertility
April 19, 2018 - New insight may allow researchers to design drugs that improve immune responses to vaccines
April 19, 2018 - FDA Approves Crysvita (burosumab-twza) for X-Linked Hypophosphatemia
April 19, 2018 - Researchers uncover origin of virus-fighting plasma B cells
April 19, 2018 - Study finds no evidence of lower intelligence in young children who had anesthesia
April 19, 2018 - Baboons break out of research facility briefly
April 19, 2018 - Study shows how deployment time increases risk of suicide attempt in soldiers
April 19, 2018 - Specific odors from malaria infected individuals attract more mosquitoes
April 19, 2018 - FDA Alert: Rhino 69 Extreme 50000 by AMA Wholesale: Recall
April 19, 2018 - Top HIV cure research team refutes major recent results on how to identify HIV persistence
April 19, 2018 - Experts propose new solutions to increase benefit, affordability of targeted cancer medicines
April 19, 2018 - Deficiency of innate immune adaptor TRIF shortens survival time of ALS mice
April 19, 2018 - New machine learning method offers better way to detect heart disease
April 19, 2018 - CNIO researchers determine structure of protein complex related to cell survival
April 19, 2018 - Faith-based diabetes support program launched by UTSA research team
April 19, 2018 - Volumetric Laser Endomicroscopy Helps ID Barrett’s Regions
April 19, 2018 - Engineered cartilage template to heal broken bones
April 19, 2018 - New computational framework accurately predicts drug-drug and drug-food interactions
April 18, 2018 - Some human cancers may be result of evolutionary accidents, research finds
April 18, 2018 - Higher levels of education linked to lower dementia risk in older African Americans
April 18, 2018 - Smoking Puts Blacks at Higher Risk for Heart Failure
April 18, 2018 - Physiotherapist contributes to guidelines for knee cartilage treatment
April 18, 2018 - Researchers use ‘top-down proteomics’ strategy to get new insights into cancer
April 18, 2018 - Physician assistants less likely to accurately diagnose early stage skin cancers
April 18, 2018 - New faster, streamlined method for bowel cancer detection and treatment
April 18, 2018 - Researchers identify new Listeria species in Costa Rica
April 18, 2018 - Novel interactive diagram shows many facets of mild traumatic brain injury
April 18, 2018 - Short sleep linked to obesity in children and adolescents
April 18, 2018 - When weight loss helps with sleep
April 18, 2018 - New mathematical model can predict efficiency of microbiome therapies
April 18, 2018 - People with high LDL cholesterol levels likely to get greater benefits from statins
April 18, 2018 - Listening to music enhances effect of anti-hypertensive drugs
April 18, 2018 - New method could help treat severe epilepsy in the future
April 18, 2018 - Study reveals increased risks for Alzheimer’s, suicide among youth in polluted cities
April 18, 2018 - Obese patients more likely to develop rapid and irregular heart rate
April 18, 2018 - Study may change global guidelines for managing children with uncomplicated fever
April 18, 2018 - Researchers find letter we’ve seen millions of times, yet can’t write
April 18, 2018 - Roswell Park researchers identify driver of cancer-promoting metabolic changes
April 18, 2018 - Study shows connection between early life stress, depression and sleep disturbances
April 18, 2018 - New tool developed to protect women from HIV infection
April 18, 2018 - Tradeshow Talks with HealthSapiens
April 18, 2018 - NYC mice carry deadly bacteria and viruses
April 18, 2018 - FDA Approves Tavalisse (fostamatinib disodium hexahydrate) for Chronic Immune Thrombocytopenia
April 18, 2018 - Doctors curbing first-time prescriptions for opioids
April 18, 2018 - Scientists analyze nanostructure of chicken eggshells
April 18, 2018 - Study finds muscle complications among active young adults with Type 1 diabetes
April 18, 2018 - Young children should be priority for snail fever treatment
April 18, 2018 - One class of diabetes drug not associated with reduced risk of death
April 18, 2018 - Breakthrough microscope revolutionizes live cell imaging of stem cells
April 18, 2018 - Study on arthritis prevalence and trends reveals unexpected findings
April 18, 2018 - Low-Vision Rehab Improves Several Elements of Visual Function
April 18, 2018 - Babies who look like their father at birth are healthier one year later: study
April 18, 2018 - New drug for migraine in the pipeline
April 18, 2018 - Precancerous colon polyps in Lynch syndrome patients display immune activation
April 18, 2018 - Mouse study shows how tungsten accumulates in the bones
April 18, 2018 - Scientists provide insight into how gene associated with autoimmunity contributes to disease
April 18, 2018 - AHA: Rx for Sedentary Kids — Friends and the Great Outdoors
April 18, 2018 - Expert panel reliable and accurate in identifying injuries in young children
April 18, 2018 - Two immune checkpoint inhibitors efficiently block leukemia development in preclinical tests
April 18, 2018 - New automated text messaging service may help combat opioid epidemic
April 18, 2018 - Large ALS-causing protein aggregates protect rather than harm neurons
April 18, 2018 - Older adults in high-quality nursing homes have lower risks for placement in long-term care facilities
April 18, 2018 - Targeting opioid receptor offers relief for chronic itching
April 18, 2018 - PBO long-lasting insecticidal nets found to be effective in reducing malaria prevalence
April 18, 2018 - New study maps links between 625 genes and different chemotherapy treatments
April 18, 2018 - Obesity rates keep rising for U.S. adults
April 18, 2018 - Bacterial ‘gene swapping’ affects emergence and spread of infectious diseases
April 18, 2018 - NSAIDs alone or with acetaminophen better than opioids at easing dental pain
Study finds genetic mutation causes ‘vicious cycle’ in most common form of amyotrophic lateral sclerosis

Study finds genetic mutation causes ‘vicious cycle’ in most common form of amyotrophic lateral sclerosis

image_pdfDownload PDFimage_print
Peter Todd, M.D., Ph.D.’s University of Michigan team finds genetic mutation causes ‘vicious cycle’ in most common form of ALS. Credit: Michigan Medicine

University of Michigan-led research brings scientists one step closer to understanding the development of neurodegenerative disorders such as ALS.

A study published today in Nature Communications details what the researchers describe as a vicious cycle of toxic protein production set in motion by cell stress. The paper explains how a repeat element in the DNA of C9orf72, a gene associated with amyotrophic lateral sclerosis and frontotemporal dementia, is translated into a toxic protein in the face of viral infection, starvation, toxins or problems with misfolded proteins.

It’s the latest study investigating repeat-associated non-AUG (RAN) translation in a host of neurological disorders that result from repeat mutations, including Huntington’s disease, ataxia and myotonic dystrophy.

“Stressed cells typically stop making proteins, but in this case the stress actually activates more toxic protein production, creating a loop that potentially drives neuronal death,” says first author Katelyn Green, a U-M graduate student in cell and molecular biology.

“This suggests that outside stressors might influence when people get neurodegenerative diseases, even when the patient has a genetic mutation,” adds senior author Peter Todd, M.D., U-M associate professor of neurology. “This may help explain when and why some people develop neurodegenerative diseases later in life.”

The research addresses the most common cause of ALS, or Lou Gehrig’s disease, leading to about 10 percent of cases. ALS is the most common motor neuron disease. The same repeat expansion mutation is also the most common genetic cause of frontotemporal dementia.

The researchers also found the same vicious cycle occurring at a second repeat mutation that causes a related neurodegenerative disease, fragile x-associated tremor/ataxia syndrome (FXTAS), suggesting this mechanism may be applicable to other repeat mutation disorders.


Explore further:
‘RNA sponge’ mechanism may cause ALS/FTD neurodegeneration

More information:
Katelyn M. Green et al, RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response, Nature Communications (2017). DOI: 10.1038/s41467-017-02200-0

Journal reference:
Nature Communications

Provided by:
University of Michigan

Tagged with:

About author

Related Articles