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:2/10/2016)... February 10, 2016 ... to 2016 iris recognition market report, combined ... is more widely accepted for border control. ... fingerprint and iris recognition technology in a ... avoid purchasing two individual biometrics devices. ...
(Date:2/9/2016)... Aware, Inc. (NASDAQ: AWRE ), a leading supplier of biometrics ... and year ended December 31, 2015.  --> ... was $6.9 million, an increase of 61% compared to $4.3 million ... quarter of 2015 was $2.6 million compared to $0.2 million in ... --> Higher revenue and operating income in the fourth ...
(Date:2/9/2016)... Vigilant Solutions announces today that an agency used ... a lead in a difficult homicide case. The agency then ... the suspect vehicle. Due to the ongoing investigation, the agency ... at the agency,s request. --> ... was found deceased at an intersection here in the City. ...
Breaking Biology News(10 mins):
(Date:2/10/2016)... , Feb. 10, 2016  Allergan plc (NYSE: ... announced that Brent Saunders , Allergan,s CEO and ... a fireside chat session at the RBC Capital Markets ... p.m. ET at The New York Palace Hotel in ... will be webcast live and can be accessed on ...
(Date:2/10/2016)... (PRWEB) , ... February 10, 2016 , ... ... attend the International Society of Pharmaceutical Engineering (ISPE) Rocky Mountain Chapter 21st Annual ... is expecting to fill more than 100 tables for its annual event, which ...
(Date:2/10/2016)... Mateo, CA (PRWEB) , ... February 10, 2016 ... ... of Multiplex Testing (PROMPT), a research registry built on the secure online PatientCrossroads ... September 2014. More than 1,600 participants have joined the PROMPT study, which seeks ...
(Date:2/10/2016)... La Jolla CA (PRWEB) , ... February 10, 2016 , ... ... of new agents for the treatment of Alzheimer’s disease, announced today it has been ... to February 18th at the Breakers in Palm Beach, Florida. The purpose of ...
Breaking Biology Technology: