JAN 15, 2016 9:22 AM PST

Unique Mutation Discovered to Cause Rare Genetic Disorder Fanconi Anemia

WRITTEN BY: Kara Marker
With new results from whole genome sequencing, scientists have identified a cause for a rare genetic disorder known to cause birth defects, bone marrow failure, and leukemia.
 
Fanconi anemia, a genetic disease that affects 1 in 160,000 individuals worldwide, is characterized by a loss of bone marrow function, and the resulting decrease in blood cell production can produce a variety of conditions like fatigue, anemia, blood clotting failure, and insufficiency of the immune response (NIH).
 

A team of scientists from the Institute for Systems Biology in Seattle, the Free University Medical Center in Amsterdam, and the Luxembourg Centre for Systems Biomedicine, a new study published in Nature Communications identified a surprising genetic mutation after completing whole genome sequencing of a child affected with Fanconi anemia.
 
The team located a mutation in the RAD51 gene, one of more than 15 genes with mutations known to cause Fanconi anemia. RAD51, along with other genes with mutations causing the disease, are part of the FA pathway (NIH). Genes in this pathway are turned on when DNA replication is inhibited because of DNA damage. With mutations occurring in this pathway, DNA repair is not accurately completed and the damage is left unchecked. 
 
What surprised the scientists involved in this study the most was that the RAD51 gene mutation was not found in his parents or his healthy sister. Normally genetic mutations causing Fanconi anemia is recessive and requires inheritance from both parents to cause disease. However, the mutation they found affected only 1 out of 2 gene copies, which they believe suggests a “novel origin” of the mutation.
 
Additionally, the mutation unexpectedly creates a protein product that hinders the action of the normal half of the protein product so even the non-mutated copy of the RAD51 gene could not effectively repair damage to DNA with other proteins of the FA pathway. Thus, the mutation these scientists identified is dominant.
 

This discovery is important as medical professionals continue to search for treatment and prevention strategies for this disease. The findings also show how this mutation can cause devastating diseases related to DNA damage like cancer and birth defects.
 
“Understanding the origins of human cancer will help diagnose it earlier and may help us devise new therapies to prevent or mitigate it,” the team reported in a news release.
 
Source: Institute for Systems Biology
 
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 12, 2021
Health & Medicine
Researchers Discover a New Genetic Disease that Prevents Antibody Formation
MAY 12, 2021
Researchers Discover a New Genetic Disease that Prevents Antibody Formation
Doctors at the Children's Hospital of Philadelphia discovered a new genetic disease that prevents B cell development.
MAY 26, 2021
Plants & Animals
Sterilizing Mosquitos with CRISPR to Control Disease
MAY 26, 2021
Sterilizing Mosquitos with CRISPR to Control Disease
By knocking out a gene in male mosquitos' testes, researchers demonstrate a powerful population control technique.
MAY 28, 2021
Genetics & Genomics
Some Biofilms Seem to Activate Cancer Genes
MAY 28, 2021
Some Biofilms Seem to Activate Cancer Genes
New research assessed bacterial and fungal biofilms, tenacious microbial communities that are tougher than small groups ...
JUN 15, 2021
Genetics & Genomics
DNA May Soon Become a Digital Storage Device
JUN 15, 2021
DNA May Soon Become a Digital Storage Device
We live in an age of information and data, and more is being generated every day. It's estimated that there are about te ...
JUN 27, 2021
Cell & Molecular Biology
Organoids Reveal Common Mechanism Underlying Rare Disorders
JUN 27, 2021
Organoids Reveal Common Mechanism Underlying Rare Disorders
Genetic testing has shown that mutations in a gene called HUWE1 are connected to rare syndromes that cause developmental ...
JUL 29, 2021
Genetics & Genomics
Can Cats Help Us Learn More About Genomic Dark Matter?
JUL 29, 2021
Can Cats Help Us Learn More About Genomic Dark Matter?
Cats have been a part of human society for thousands of years, and now scientists are suggesting that they could help pr ...
Loading Comments...