MAR 18, 2016 1:10 PM PDT

Scientists Discover New Recessive Disease

WRITTEN BY: Kara Marker
The genetic culprit behind a rare recessive disorder has been identified, further allowing for great reaches into personalized medicine. The disorder is characterized by intellectual disability, epileptic seizures, and hypotonia, a condition causing decreased muscle tone (MedlinePlus).
 
From the University of Geneva, lead author Periklis Makrythanasis and a group of scientists looked at families with symptoms of the recessive disease that also came from the same ancestor, also referred to as “inbred groups” or “consanguineous” families. In order for the family to be considered for examination, several of the family members had to be experiencing the three symptoms.
 
Through extensive genetic sequencing of family members presenting symptoms, Makrythanasis and his team found the gene responsible for the three characteristic symptoms, called PIGG.
 

 
PIGG is a vital component of the body’s protein production chain, and it encodes an enzyme that regulates processing and modification of other important proteins. When PIGG cannot function normally due to mutation, the same important proteins are not processed normally, resulting in the three symptoms of this recessive disorder. Makrythanasis’ study was recently published in The American Journal of Human Genetics.
 
With their genetic sequencing studies, the scientists were able to confirm PIGG’s direct role in prompting the disease. In addition, they used a database called “Matchmaker” to see if other people in the world with the same three symptoms also had the same mutation. They were successful.
 
Now doctors have a mutation to search for in families where this recessive disorder is known to be a risk, even before a baby is born.
 
"As personalized genetic diagnosis becomes possible, this disease will be identified among other people presenting the same symptoms,” Makrythanasis said. “These results also pave the way for future new treatment. To solve a problem, you need to identify the cause, which is what we have done here.”
 

Source: University of Geneva
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
MAR 04, 2020
Cannabis Sciences
MAR 04, 2020
Smoking Marijuana Could Cause 12 Hour Erections
Smoking marijuana is known to have multiple side effects. From getting the munchies to paranoia and memory problems, it is also usually thought to cause er...
MAR 05, 2020
Cannabis Sciences
MAR 05, 2020
Why Seniors Use Cannabis
People over 50 are the fastest-growing group of cannabis users. As journalist Alex Halperin pointed out in The Guardian, “The generation that camped...
MAR 12, 2020
Cannabis Sciences
MAR 12, 2020
In New Jersey, Medical Marijuana Patients Can't Be Fired for Drug Tests
Thirty-three states, Washington D.C., Guam, Puerto Rico and the U.S. Virgin Islands now have a comprehensive, publicly available medical marijuana program....
MAR 13, 2020
Health & Medicine
MAR 13, 2020
Congressional Committee Advances Medical Marijuana Bills for Veterans
The House Veterans’ Affairs Committee recently advanced two bills relating to veteran use of medical marijuana.  Currently, in the United States...
MAR 17, 2020
Immunology
MAR 17, 2020
What's the deal with SARS-CoV-2's spike protein?
Structurally, SARS-CoV-2 (the virus that causes COVID-19) are spherical shells consisting of a lipid membrane, with a core containing the virus’ gene...
MAR 18, 2020
Earth & The Environment
MAR 18, 2020
Why Are Nanoplastics so Hard to Get Out of Water?
By now, you’ve probably heard of microplastics, which have infiltrated the environment from the deepest parts of the sea to remote mountain ranges. R...
Loading Comments...