Navigation Links
Found a genetic mutation causing mental retardation very similar to Angelman syndrome in Amish
Date:3/12/2013

Researchers from the research group in growth factors and cell differentiation at IDIBELL and the University of Barcelona (UB) have participated in an international study that has identified the genetic cause of developmental delay observed in Amish individuals in the USA. The research results have been published in the Journal of Medical Genetics.

Amish community

Amish is a religious community known for a simple and traditional style of life and for its reluctance to adopt modern amenities and technologies. The IDIBELL-UB researcher Jos Luis Rosa explains that "in these communities there are high rates of inbreeding, making homozygous recessive diseases more frequent than in the general population".

Among the Amish community, the researchers have observed individuals with similar mental retardation observed in patients with Angelman syndrome: learning disabilities, speech impairment, movement disorders and characteristic behavioral patterns of hyperactivity. "We observed", explains Rosa, "that there must be a common genetic cause."

Genetic studies of fifteen individuals of Old Order Amish Community in Ohio identified a mutation in HERC2 gene. The result is an unstable protein that does not function properly.

Genetic counseling

These findings not only will be useful to study the pathophysiology of the retardation observed among members of the Amish community, but also will be a new tool in the field of genetic counseling.

"Individuals from anywhere in the world that have similar symptoms to Angelman syndrome but do not have the genetic mutation associated with the disease and are diagnosed as Angelman-like, could have the same gene mutation in HERC 2 observed in Amish, which could provide an explanation for the disorder, and genetic counseling to their families", explains the researcher.

Currently, the team lead by Jos Luis Rosa is studying how this mutation works at molecular level and they are attempting to reverse in vitro the mutation in HERC2 and rescue the cell function. Rosa warns, however, "that we are very far from being able to apply a human gene therapy for this neurological disorder".

This study demonstrates for the first time the relationship netween the protein HERC2 and human diseases. Previously, the group of Jos Luis Rosa had described the relationship between a point mutation in the HERC1 gene and neurodegeneration in mice. "Overall," says the researcher, "these studies demonstrate an important role of HERC protein family" in the pathogenesis of neuronal disorders.


'/>"/>

Contact: Arantxa Mena
comunicacio@idibell.cat
34-932-607-129
IDIBELL-Bellvitge Biomedical Research Institute
Source:Eurekalert

Related biology news :

1. Kessler Foundation implements Ekso Bionics first commercial robotic exoskeleton
2. Hiding in plain sight, new frog species found in New York City
3. Genetic variation in East Asians found to explain resistance to cancer drugs
4. Circadian rhythms have profound influence on metabolic output, UCI study reveals
5. 1 solution to global overfishing found
6. Genetic mutation found in familial chronic diarrhea syndrome
7. Mechanism found connecting metastatic breast cancer and arthritis
8. Newly found protein helps cells build tissues
9. Renowned geneticist R. Rodney Howell receives ACMG Foundation Lifetime Achievement Award
10. John A. Kaufman named 2012 Dotter Lecturer by Society of Interventional Radiology Foundation
11. Genzyme/ACMG Foundation Genetics Training Award in Clinical Biochemical Genetics announced
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/11/2017)... NXT-ID, Inc. (NASDAQ:   NXTD ) ("NXT-ID" or ... independent Directors Mr. Robin D. Richards and Mr. ... the company,s corporate governance and expertise. ... Gino Pereira , Chief Executive Officer said," ... and benefiting from their considerable expertise as we move forward ...
(Date:4/5/2017)...  The Allen Institute for Cell Science today announces ... portal and dynamic digital window into the human cell. ... application of deep learning to create predictive models of ... a growing suite of powerful tools. The Allen Cell ... publicly available resources created and shared by the Allen ...
(Date:4/5/2017)... , April 4, 2017 KEY FINDINGS ... to expand at a CAGR of 25.76% during the ... is the primary factor for the growth of the ... https://www.reportbuyer.com/product/4807905/ MARKET INSIGHTS The global stem ... technology, application, and geography. The stem cell market of ...
Breaking Biology News(10 mins):
(Date:6/19/2017)... ... June 19, 2017 , ... ... service activities supporting EDETEK’s products including training, implementation, support, and client process and ... new role. He has previously held leadership roles for service providers and top-tier ...
(Date:6/19/2017)... Ames, Iowa (PRWEB) , ... June 19, 2017 , ... ... and interplay among its cells and tissues by delivering pollen and nectar containing nutrients ... and the means to stay healthy. , Many recent indicators point to a decline ...
(Date:6/16/2017)... ... June 16, 2017 , ... CTNext , Connecticut’s go-to resource for ... at The LOFT at Chelsea Piers in Stamford. , Nine finalists, all of whom ... judges for an opportunity to secure $10,000 awards to help support business growth. The ...
(Date:6/15/2017)... ... June 15, 2017 , ... The newest exhibition at the ... creative experimentation and interdisciplinary collaboration. Feature Creep, a solo exhibition by Maximillian Lawrence, ... will be held at EKG, located at 3600 Market Street in Philadelphia, on ...
Breaking Biology Technology: