APR 03, 2018 7:54 PM PDT

Beneficial Genetic Mutations Could Help Patients

WRITTEN BY: Carmen Leitch

New research findings could help develop treatments for a variety of blood disorders, like sickle cell anemia. CRISPR gene editing was used in a study led by UNSW Sydney, in which beneficial mutations were introduced to blood cells, increasing the production of a molecule called fetal hemoglobin. These 'good' mutations are naturally carried by some people, and this work solves long-standing questions about how they impact gene expression. It was reported in Nature Genetics.

A sickle cell / Credit: Pixnio

"Our new approach can be seen as a forerunner to 'organic gene therapy' for a range of common inherited blood disorders including beta-thalassemia and sickle cell anemia," said study leader Professor Merlin Crossley, Deputy Vice-Chancellor Academic of UNSW. "It is organic because no new DNA is introduced into the cells; rather we engineer in naturally occurring, benign mutations that are known to be beneficial to people with these conditions. It should prove to be a safe and effective therapy, although more research would be needed to scale the processes up into effective treatments."

In the sickle cell anemia and thalassemia disorders, patients have a problem with their hemoglobin molecule, which has a critical role in our bodies. It gathers oxygen up from the lungs and moves it through the blood to other areas. Those with such blood diseases need transfusions and medications their entire lives. However, some also have mutations in their genome that offset the disease, mutations that activate fetal hemoglobin and compensate for the loss of their adult hemoglobin molecule.

"The fetal hemoglobin gene is naturally silenced after birth. For 50 years, researchers have been competing furiously to find out how it is switched off, so it can be turned back on," said Crossley. "Our study, which is the culmination of many years of work, solves that mystery.”

The researchers identified the mechanism underlying the rescue. “We have found that two genes, called BCL11A and ZBTB7A, switch off the fetal hemoglobin gene by binding directly to it. And the beneficial mutations work by disrupting the two sites where these two genes bind,” continued Crossley.

"This landmark finding not only contributes to our appreciation of how these globin genes are regulated. It means we can now shift our focus to developing therapies for these genetic diseases using CRISPR to target precise changes in the genome," added Crossley.

The most common genetic disorders in the world that affect one gene are beta-thalassemia and sickle cell anemia. The globin genes have also been well-characterized. Now this work can bring the knowledge about the gene to benefit patients.

 

Sources: AAAS/Eurekalert! Via UNSW, Nature Genetics

About the Author
  • Experienced research scientist and technical expert with authorships on 28 peer-reviewed publications, traveler to over 60 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
You May Also Like
APR 25, 2020
Neuroscience
Autoimmune Protein May Cause OCD
APR 25, 2020
Autoimmune Protein May Cause OCD
Researchers from Queen Mary University in London have discovered a specific autoimmune protein that may cause OCD-relate ...
MAY 26, 2020
Neuroscience
Alzheimer's Gene Doubles Risk of Severe COVID-19
MAY 26, 2020
Alzheimer's Gene Doubles Risk of Severe COVID-19
Researchers from the University of Exeter, England, and the University of Connecticut have found that people carrying fa ...
MAY 31, 2020
Genetics & Genomics
Regulating Gene Expression with Electricity
MAY 31, 2020
Regulating Gene Expression with Electricity
Scientists have created many different implantable devices and medicines that are as simple as pacemakers or as complex ...
JUN 14, 2020
Chemistry & Physics
Why Are There So Few Black People in STEM?
JUN 14, 2020
Why Are There So Few Black People in STEM?
On June 10th, 2020, thousands of STEM scientists and organizations around the world went on strike to protest systemic r ...
JUN 01, 2020
Neuroscience
New Path to Gene Therapy for ALS
JUN 01, 2020
New Path to Gene Therapy for ALS
Video: Todd Cohen, PhD (UNC) discusses GA protein accumulation.  At the time of this video promising research was a ...
JUL 05, 2020
Microbiology
Stimulating Antibiotic Production in Bacteria
JUL 05, 2020
Stimulating Antibiotic Production in Bacteria
The microorganisms of the world have to compete for survival, and they sometimes do battle with one another. Some use an ...
Loading Comments...