Navigation Links
Protein regulation linked to intellectual disability

Genetics researchers at the University of Adelaide have solved a 40-year mystery for a family beset by a rare intellectual disability and they've discovered something new about the causes of intellectual disability in the process.

While many intellectual disabilities are caused directly by a genetic mutation in the so-called "protein coding" part of our genes, the researchers found that in their case the answer laid outside the gene and in the regulation of proteins.

Protein regulation involves the switching on or off of a protein by specific genes. As a consequence in this case, either too much or too little of this protein can trigger the disability.

The team has studied a large (anonymous) Australian family of 100 people, who for generations have not known the source of their genetically inherited condition.

The disability which results in a lower IQ, behavioral problems such as aggression, and memory loss, and is linked with developmental delays, epilepsy, schizophrenia and other problems affects only the male family members and can be passed on by the female family members to their children.

Genetic samples taken from the family and laboratory testing involving mice have confirmed that the protein produced by the HCFC1 (host cell factor C1) gene is the cause of this disability.

"The causes of intellectual disability generally are highly variable and the genetic causes in particular are numerous. The vast majority of intellectual disabilities are due to genetic mutations in proteins, so it was rather unexpected that we found this particular disability to be due to a regulatory mutation," says the leader of the study, Professor Jozef Gecz from the University of Adelaide's School of Pediatrics and Reproductive Health.

"We've been researching this specific disability for 10 years and it's taken us the last three years to convince ourselves that the protein regulation is the key," he says.

"For the family, this means we now have a genetic test that will determine whether or not a female member of the family is a carrier, which brings various benefits for the family.

"From a scientific point of view, this widens our viewpoint on the causes of these disabilities and tells us where we should also look for answers for those families and individuals without answers.

"This is just the tip of the iceberg in understanding the impact of altered gene regulation on intellectual disability the gene regulatory landscape is much bigger than the protein coding landscape. We have already found, and I would expect to continue finding, a number of other intellectual disabilities linked with protein regulation over the next 20 years or so."

Contact: Professor Jozef Gecz
University of Adelaide

Related medicine news :

1. Lactation protein suppresses tumors and metastasis in breast cancer
2. Treating Sperm With Missing Protein Might Help Male Fertility
3. Research identifies protein that regulates key fate decision in cortical progenitor cells
4. Cervical cancer and pre-cancer cervical growths require single HPV protein
5. Scripps Research Institute scientists show protein linked to hunger also implicated in alcoholism
6. Hopkins scientists discover how an out-of-tune protein leads to muscle demise in heart failure
7. Protein linked to therapy resistance in breast cancer
8. Well-known protein reveals new tricks
9. Binding sites for LIN28 protein found in thousands of human genes
10. Immune system protein could explain pancreatitis
11. In Diabetes, Any Protein in Urine May Signal Heart Risk
Post Your Comments:
Related Image:
Protein regulation linked to intellectual disability
(Date:6/27/2016)... ... 27, 2016 , ... "FCPX editors can now reveal their media with growing ... said Christina Austin - CEO of Pixel Film Studios. , ProSlice Color brings ... users can now reveal the media of their split screens with growing colorful panels. ...
(Date:6/27/2016)... ... June 27, 2016 , ... ePAY ... partnership with Connance, a healthcare industry leader providing predictive analytics to optimize ... combine to provide health systems, hospitals and ambulatory surgical centers with dramatic ...
(Date:6/27/2016)... ... 2016 , ... recently awarded their highest five-star rating to Best Buy ... in the United States and Canada wear eyeglasses. Once considered to be a purely ... make a fashion statement. Even celebrities use glasses as a way of creating an ...
(Date:6/26/2016)... ... June 26, 2016 , ... On June 10-11, 2016, A Forever Recovery, a ... and World’s Longest Breakfast Table in Battle Creek, MI, where the rehabilitation facility is ... to some of the world’s leading providers of cereal and other breakfast foods. Its ...
(Date:6/26/2016)... ... , ... PawPaws brand pet supplements owned by Whole Health Supply ... health of felines. The formula is all-natural and is made from Chinese herbs that ... Cat Kidney Support Supplement Soft Chews are Astragalus Root Extract and Rehmannia Root ...
Breaking Medicine News(10 mins):
(Date:6/26/2016)... 27, 2016  VMS Rehab Systems, Inc. ( ... whatever measures required to build a strong and stable ... currently listed on the OTC Markets-pink current trading platform. ... CEO, "We are seeing an anomaly in market trading ... only by the Company, but shareholders and market players ...
(Date:6/24/2016)... Calif. , June 24, 2016  Global ... a biopharmaceutical company developing novel therapeutics for the ... needs, today announced the closing of its previously ... common stock, at the public offering price of ... the offering were offered by GBT. GBT estimates ...
(Date:6/24/2016)... The Academy of Managed Care Pharmacy (AMCP) ... would allow biopharmaceutical companies to more easily share health ... and coverage decisions, a move that addresses the growing ... The recommendations address restrictions in the sharing of ... label, a prohibition that hinders decision makers from accessing ...
Breaking Medicine Technology: