Navigation Links
Protein regulation linked to intellectual disability
Date:10/25/2012

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
jozef.gecz@adelaide.edu.au
61-881-616-339
University of Adelaide
Source:Eurekalert  

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:
*Name:
*Comment:
*Email:
Related Image:
Protein regulation linked to intellectual disability
(Date:2/9/2016)... ... 09, 2016 , ... Sir Grout, the leading hard surface ... announce that many of their franchises have received the Super Service Award from ... franchises received customer recognition through positive reviews and testimonials, as well as evaluations ...
(Date:2/9/2016)... ... February 09, 2016 , ... The Brain Preservation Foundation’s (BPF) ... from 21st Century Medicine (21CM) ( http://www.21cm.com/ ), spearheaded by recent MIT ... of an intact rabbit brain for extremely long-term storage using a combination of ...
(Date:2/8/2016)... ... February 08, 2016 , ... ... Nutrition into the Food & Beverage and Dietary Supplement ... partner throughout Canada and USA geographies east of the Rocky Mountains since 2012. ...
(Date:2/8/2016)... ... February 08, 2016 , ... The Valentine’s Season is famous for gift giving with flowers, chocolates ... they are loved. This year, for more than 5.6 million Americans suffering with Alzheimer’s, ... be enough to remind them of the lives they’ve led and the people they’ve touched. ...
(Date:2/8/2016)... York, NY (PRWEB) , ... February 08, 2016 , ... ... are too much to handle, you are not alone. According to the Center for ... include heart disease, stroke, type 2 diabetes and certain types of cancer, some of ...
Breaking Medicine News(10 mins):
(Date:2/9/2016)... 2016 The global prefilled syringes market accounted ... expected to grow with a CAGR of 12.9% during ... segment dominated the global prefilled syringes market, with 90.1% ... --> The global market of prefilled syringes is ... geriatric population, increasing demand for vaccines, increasing prevalence of ...
(Date:2/9/2016)... 9, 2016 The life of Dr. Jan ... been anything but ordinary.  Twists of fate, combined with sheer ... and the constraints of communist Czechoslovakia to New ... go on to make history by playing a key role ... in the world, Remicade.  Dr. Vilcek brings readers along his ...
(Date:2/9/2016)... N.J. , Feb. 9, 2016  Bluestar Silicones ... (LSR) product line for long-term implant applications and ... Medical Design & Manufacturing (MD&M) West Conference (Booth ... --> --> ... Silbione® Biomedical LSRs offer outstanding physical properties enabling ...
Breaking Medicine Technology: