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:6/9/2016)... , June 9, 2016 ... deploy Teleste,s video security solution to ensure the safety of ... during the major tournament Teleste, an ... systems and services, announced today that its video security solution ... to back up public safety across the country. The ...
(Date:6/2/2016)... June 2, 2016 The Department of ... awarded the 44 million US Dollar project, for the ... Plates including Personalization, Enrolment, and IT Infrastructure , ... the production and implementation of Identity Management Solutions. Numerous renowned ... Decatur was selected for the most ...
(Date:6/1/2016)... 1, 2016 Favorable Government Initiatives ... and Criminal Identification to Boost Global Biometrics System Market ... TechSci Research report, " Global Biometrics Market By ... and Opportunities, 2011 - 2021", the global biometrics market ... on account of growing security concerns across various end ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... ... June 23, 2016 , ... Mosio, a leader ... “Clinical Trials Patient Recruitment and Retention Tips.” Partnering with experienced clinical research professionals, ... providing practical tips, tools, and strategies for clinical researchers. , “The landscape of ...
(Date:6/23/2016)... 23, 2016   Boston Biomedical , an ... designed to target cancer stemness pathways, announced that ... Orphan Drug Designation from the U.S. Food and ... cancer, including gastroesophageal junction (GEJ) cancer. Napabucasin is ... inhibit cancer stemness pathways by targeting STAT3, and ...
(Date:6/23/2016)... , June 23, 2016 A person commits a ... crime scene to track the criminal down. An ... Food and Drug Administration (FDA) uses DNA evidence to track ... Sound far-fetched? It,s not. The FDA has increasingly ... support investigations of foodborne illnesses. Put as simply as possible, ...
(Date:6/23/2016)... , ... June 23, 2016 , ... ... YM (Yeast and Mold) microbial test has received AOAC Research Institute approval 061601. ... microbial tests introduced last year,” stated Bob Salter, Vice President of Regulatory and ...
Breaking Biology Technology: