JUN 17, 2016 10:54 AM PDT

Myotonic Dystrophy-Related Heart Arrhythmia Explained

WRITTEN BY: Kara Marker
Approximately one in eight thousand people inherit myotonic dystrophy (DM), the most common form of muscular dystrophy in adults. There’s no cure for this debilitating disease, but scientists are close to identifying the best ways to interfere with the most dangerous complications. In the case of a new study published in Nature Communications, scientists are close to reducing the deaths from DM-related heart arrhythmia, a condition with previously unknown causes.
 Symptoms of DM - via www.geneticdisorders.info
From Osaka University, Masanori Takahashi, PhD, and his team are building on their 2002 study that connected muscle stiffness from DM to mis-splicing of RNA, a result of a decrease in chloride channel proteins. As it turns out, a very similar condition could explain why many DM patients experience a potentially fatal heart arrhythmia.
 
It turns out that it is a compromised sodium channel that causes abnormal RNA splicing that causes heart arrhythmia, presenting symptoms very similar to an inherited condition called Brugada syndrome, Takahashi and his team discovered. Brugada syndrome was discovered in 1992, described as an “inherited cardiac arrhythmia syndrome that can lead to life-threateneing ventricular tachycardia and fibrillation.”
 
Alterations in either the sodium or chloride channels impacts RNA splicing because the genetic material expands abnormally before congregating in the nucleus and seizing proteins for splicing.
 
Takahashi and his team confirmed their discovery with a study where they induced RNA abnormalities in mice. The animals ended up developing a similar heart arrhythmia to those of DM patients. A computer simulation of an altered sodium channel function provided further clarity: an electrocardiogram reported abnormalities also similar to DM patients.
 
Myotonic dystrophy causes muscle spasms, cataracts, and endocrine disturbances in addition to the lethal cardiac abnormalities. People with this disease also have “long, thin faces,” droopy eyelids, and a long neck. Depending on the severity of the disease, people with DM can live well into adulthood or die in infancy. Researchers have yet to identify a cure or effective treatment for DM or any other types of muscular dystrophy.
 


Sources: Genetics Home Reference, Masonic Medical Research Laboratory, National Institute of Neurological Disorders and Stroke, Osaka University
About the Author
  • I am a scientific journalist and enthusiast, especially in the realm of biomedicine. I am passionate about conveying the truth in scientific phenomena and subsequently improving health and public awareness. Sometimes scientific research needs a translator to effectively communicate the scientific jargon present in significant findings. I plan to be that translating communicator, and I hope to decrease the spread of misrepresented scientific phenomena! Check out my science blog: ScienceKara.com.
You May Also Like
MAY 31, 2021
Cardiology
OCD Linked to Increased Risk of Ischemic Stroke
MAY 31, 2021
OCD Linked to Increased Risk of Ischemic Stroke
Researchers have found that adults with obsessive-compulsive disorder (OCD) are over 3 times more likely to have an isch ...
AUG 15, 2021
Neuroscience
Cholesterol in the Brain Linked to Alzheimer's Plaques
AUG 15, 2021
Cholesterol in the Brain Linked to Alzheimer's Plaques
Cholesterol levels in the brain tightly regulate the production of amyloid-beta plaques in the brain, a key feature of A ...
AUG 19, 2021
Cardiology
How Gut Microbes May Link a High-Fat Diet and Heart Disease
AUG 19, 2021
How Gut Microbes May Link a High-Fat Diet and Heart Disease
Cardiovascular disease is the leading cause of death around the world. Atherosclerosis is known to be a major contributo ...
SEP 07, 2021
Health & Medicine
Vaccines- a Long History of Cost-Benefit Analysis
SEP 07, 2021
Vaccines- a Long History of Cost-Benefit Analysis
Vaccination and new treatments for diseases have remained topics of skepticism since their inception. When it came to an ...
SEP 28, 2021
Drug Discovery & Development
The FDA approves drug to treat a bad cholesterol in children
SEP 28, 2021
The FDA approves drug to treat a bad cholesterol in children
Familial hypercholesterolemia (FH) is a genetic disorder that afflicts approximately 1 in 250 people. Interestingly, whi ...
OCT 21, 2021
Drug Discovery & Development
Cholesterol Drug Regrows Neurons After Spinal Cord Injury
OCT 21, 2021
Cholesterol Drug Regrows Neurons After Spinal Cord Injury
Fenofibrate, an FDA-approved drug used to reduce cholesterol levels, causes sensory neurons in the spine following spina ...
Loading Comments...