We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress
Sign In
Advertise with Us
PURITAN MEDICAL

Download Mobile App




Identification of Rare Mutation May Lead to Heart Repair Gene Therapy

By LabMedica International staff writers
Posted on 17 Mar 2014
Print article
Image: In the heart muscle cell above, the arrows show an early sign of replication (Photo courtesy of Johns Hopkins University).
Image: In the heart muscle cell above, the arrows show an early sign of replication (Photo courtesy of Johns Hopkins University).
Identification of the mutation responsible for an exceedingly rare type of heart defect in infants may pave the way for a gene therapy approach for regenerating adult heart tissue damaged by heart attack or disease.

Investigators at Johns Hopkins University (Baltimore, MD, USA) had been examining the hearts removed from two infant siblings during heart transplant surgery. Initial findings were that cells in the heart muscle (cardiomyocytes) were continuing to divide despite the fact that the infants had passed the age by which such cell division has normally terminated. The investigators established that the infants' genomes contained two abnormal copies of the ALMS1 gene. The same mutation was then found in five infant patients, including two sets of siblings, at the Hospital for Sick Children (Toronto, Canada).

The investigators reported in the March 4, 2014, online edition of the journal Nature Communications that the ALMS1 gene mutation caused a deficiency of the Alström protein that impaired the ability of the heart cells to stop dividing. In a genetically engineered mouse model, animals that lacked the ALMS1 gene displayed increased cardiomyocyte proliferation at two weeks postnatal compared with wild-type littermates. Furthermore, cultured cardiomyocytes divided abnormally after exposure to siRNA (short interfering RNA) that blocked expression of the ALMS1 gene.

“This study offers hope that we can someday find a way to restore the ability of heart cells to divide in response to injury and to help patients recover from many kinds of cardiac dysfunction,” said senior author Dr. Daniel P. Judge, associate professor of cardiology at Johns Hopkins University. “Things usually heal up well in many parts of the body through cell division, except in the heart and the brain. Although other work has generated a lot of excitement about the possibility of treatment with stem cells, our research offers an entirely different direction to pursue in finding ways to repair a damaged heart.”

“The children who helped us recognize the importance of this gene were born with a rare condition that leads to heart failure and many other problems, such as diabetes, obesity, blindness, and deafness,” said Dr. Judge. “Now we hope to apply these discoveries to help millions of others with heart disease.”

Related Links:

Johns Hopkins University
The Hospital for Sick Children
 

Platinum Member
COVID-19 Rapid Test
OSOM COVID-19 Antigen Rapid Test
HLX
Anti-Cyclic Citrullinated Peptide Test
GPP-100 Anti-CCP Kit
New
Gold Member
Plasma Control
Plasma Control Level 1

Print article

Channels

Clinical Chemistry

view channel
Image: Reaching speeds up to 6,000 RPM, this centrifuge forms the basis for a new type of inexpensive, POC biomedical test (Photo courtesy of Duke University)

POC Biomedical Test Spins Water Droplet Using Sound Waves for Cancer Detection

Exosomes, tiny cellular bioparticles carrying a specific set of proteins, lipids, and genetic materials, play a crucial role in cell communication and hold promise for non-invasive diagnostics.... Read more

Molecular Diagnostics

view channel
Image: The cobas Malaria test is the first FDA-approved molecular test to screen U.S. blood donors for malaria (Photo courtesy of Roche)

First FDA-Approved Molecular Test to Screen Blood Donors for Malaria Could Improve Patient Safety

Malaria, a serious illness that often leads to death, is spread by a specific mosquito species that infect humans with a parasite. Other transmission modes include blood transfusions, organ transplants,... Read more

Hematology

view channel
Image: The low-cost portable device rapidly identifies chemotherapy patients at risk of sepsis (Photo courtesy of 52North Health)

POC Finger-Prick Blood Test Determines Risk of Neutropenic Sepsis in Patients Undergoing Chemotherapy

Neutropenia, a decrease in neutrophils (a type of white blood cell crucial for fighting infections), is a frequent side effect of certain cancer treatments. This condition elevates the risk of infections,... Read more

Pathology

view channel
Image: The medical office procedure detects the key biomarker in Parkinson’s and related neurodegenerative diseases (Photo courtesy of BIDMC)

Simple Skin Biopsy Test Detects Parkinson’s and Related Neurodegenerative Diseases

Parkinson's disease and a group of related neurodegenerative disorders known as synucleinopathies impact millions globally. These conditions, including Parkinson’s disease (PD), dementia with Lewy bodies... Read more
Copyright © 2000-2024 Globetech Media. All rights reserved.