- Yale University
researchers use new gene editing mechanism to correct genetic mutations
associated with thalassemia.
- Successful treatment of
thalassemia in animal model.
- The hemoglobin level was
found to be normal after140 days of the treatment.
- The study promises cure for severe
thalassemia patients whose lifespan may be shortened due to the condition.
Researchers from Yale
University have developed a new gene editing mechanism that corrects the
mutation which leads to thalassemia, a form of anemia. Thalassemia is a
which leads to anemia and has no known cure.
- It is an autosomal recessive
condition in which two copies of the mutated gene need to be present for the
condition to be expressed.
- It occurs in 4.4 births for
every 10,000 live births.
- The mutation could occur in the
alpha or the beta gene.
- Alpha thalassemia is found largely
in African population.
- Beta thalassemia is found in
Gene Editing Mechanism
The Yale University
researchers led by Peter M. Glazer, who is the
professor of therapeutic radiology and genetics, along with the co-authors
devised a gene editing system that, unlike other gene editing tools like CRISPR
, did not give
rise to unintended gene editing.
‘Severe thalassemia may soon be cured by gene editing, giving hope to a healthier future.’
The researchers identified
a key protein from the bone marrow that served to activate stem cells. Stem
cells are the most responsive cells to gene editing. This protein was then
combined with a synthetic molecule called PNA (Peptide nucleic acid), which was
similar to DNA, and then bound to the gene that was targeted. The resultant
structure was a triple helix. The synthetic cell then triggers a process that
corrects the error in the gene.
into The Study
The PNA was then
transported using nanoparticles that were injected into mice using an Intravenous
(IV) line. In previous studies, gene editing tools were only studied in culture
dishes and this was the first time that they were being introduced into animal
The results of the study
were extremely positive as the mice showed no signs of anemia. When the
researchers tested the mice after 140 days, the hemoglobin levels in the blood
Gene editing serves to
correct the root cause of a disease condition and correction of phenotype or
symptoms is the primary goal for any treatment procedure.
condition in which the body does not have the required amount of hemoglobin in
the blood, which leads to a drop in oxygen levels. Anemia is present in a large
number of people, especially in young women, however, thalassemia
is a genetic condition that triggers anemia due to mutations in the
The symptoms of
thalassemia include fatigue, breathlessness, poor growth and even bone
deformations on the face. Folate supplements are necessary to increase the
hemoglobin levels in the blood. In severe cases of thalassemia, blood
transfusions are necessary but iron supplements should be taken with caution
when blood transfusions are carried out. The lifespan of an individual with
severe thalassemia is between 20 to 30 years if blood transfusions are not
carried out regularly.
The current study that
focuses on correcting the gene mutations that lead to lowered hemoglobin in the
blood will serve to bring hemoglobin levels to normal limits, deeming blood
transfusions unnecessary. Continued research and development of a method that
can be used on human trials will render the research a landmark in the quest
for a cure for thalassemia.
- Thalassemia - (https://medlineplus.gov/ency/article/000587.htm)
- Yale scientists edit gene mutations in inherited
form of anemia - (https://www.eurekalert.org/emb_releases/2016-10/yu-yse102416.php)