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
DEC 20, 2020
Genetics & Genomics
A Repurposed Drug Can Treat a Genetic Disorder
DEC 20, 2020
A Repurposed Drug Can Treat a Genetic Disorder
Some researchers have sought to treat genetic diseases by correcting the mutation. But it may be possible to use another ...
DEC 24, 2020
Clinical & Molecular DX
Feeling Unmotivated? It Could Be Dementia.
DEC 24, 2020
Feeling Unmotivated? It Could Be Dementia.
Apathy, characterized by a pronounced lack of enthusiasm, motivation, or interest, is a predictor of the future onset of ...
JAN 03, 2021
Genetics & Genomics
Exploiting Genetic Vulnerabilities in Cancer Cells
JAN 03, 2021
Exploiting Genetic Vulnerabilities in Cancer Cells
Genetic errors can drive cancer, often when critical genes like those that control cell division and proliferation becom ...
JAN 11, 2021
Genetics & Genomics
Treating Progeria With a CRISPR Technique
JAN 11, 2021
Treating Progeria With a CRISPR Technique
Hutchinson-Gilford progeria syndrome is a rare disorder that impacts around 400 people in the world. Many people have he ...
JAN 11, 2021
Neuroscience
Religion Promotes Psychology-backed Methods to Manage Distress
JAN 11, 2021
Religion Promotes Psychology-backed Methods to Manage Distress
Researchers from the University of Illinois Urbana-Champaign have found that psychologists recommend similar mechanisms ...
JAN 20, 2021
Immunology
Gut Bacteria's Poison Arrows Exposed
JAN 20, 2021
Gut Bacteria's Poison Arrows Exposed
Bacteria armed with toxin bombs and excruciating abdominal pains caused by raging inflammation in the gut. While the cau ...
Loading Comments...