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 m
'/>"/>

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

Page: 1 2

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:2/5/2015)... 2015   Epic Sciences , a precision diagnostics company ... Murali Prahalad , Ph.D., president and CEO, is scheduled ... (PMWC) 2015: Silicon Valley, which is taking place at the ... on January 26-28, 2015. Dr. Prahalad ... Biomarkers." Last year, Epic Sciences was a finalist in the ...
(Date:2/5/2015)... Jan. 28, 2015 NXT-ID, Inc. (NASDAQ: ... a biometric authentication company focused on the growing mobile ... RedChip Global Online CEO Conference on January 29 th ... Gino Pereira , CEO of NXT-ID will present and ... the Wocket smart wallet and its full suite of ...
(Date:1/22/2015)... Markets ( http://www.researchandmarkets.com/research/4trb7t/biometrics_a ) has announced the addition ... report to their offering. , The primary ... is who she/he is claiming to be, and for this ... physical characteristics, such as fingerprint, hand or palm print, iris, ...
Breaking Biology News(10 mins):Epic Sciences to Present at Personalized Medicine World Conference 2015 on the Use of Circulating Tumor Cells as Cancer Biomarkers 2CEO of NXT-ID, Inc. to Discuss Company's Biometric Technologies at RedChip Online Conference January 29th 2CEO of NXT-ID, Inc. to Discuss Company's Biometric Technologies at RedChip Online Conference January 29th 3Biometrics - A Global Market Overview 2Biometrics - A Global Market Overview 3
... a potential national health emergency, scientists have developed a ... future course of an avian influenza pandemic, given today's ... of scientists from Los Alamos National Laboratory in New ... Cancer Research Center in Seattle, is presented in the ...
... bonefish catch is always gratifying for the avid angler, ... Island in December proved even more satisfying for the ... Unlimited (BTU) and the University of Miami Rosenstiel School ... record catch, representing the longest movement by a bonefish ...
... For ants it's a way of life! Scientists at the ... learn how to visually judge the height of horizontal barriers ... down. Tobias Seidl will be presenting his latest research findings ... on Tuesday 4th April. , Desert ants generally scurry around ...
Cached Biology News:Avian flu modeled on supercomputer, explores vaccine and isolation options for thwarting a pandemic 2Avian flu modeled on supercomputer, explores vaccine and isolation options for thwarting a pandemic 3Avian flu modeled on supercomputer, explores vaccine and isolation options for thwarting a pandemic 4Record bonefish 2
(Date:2/27/2015)... Immunovaccine Inc. (“Immunovaccine” or the “Company”) ... press release disseminated this morning by PR Web, and ... press release states that Immunovaccine has entered into a ... release did not originate from Immunovaccine and there is ... release. Please note that all official statements by ...
(Date:2/27/2015)... , Feb. 27, 2015 Research and Markets ... "Global Market Report of Trypsin" report to their ... (CAS 9002-07-7) aims at providing comprehensive data on Trypsin globally ... , North America , ... pays close attention to Trypsin This report focuses ...
(Date:2/27/2015)... SAN DIEGO , Feb. 27, 2015  Pfenex ... in the development of biosimilar therapeutics, today announced that ... San Francisco Marriott Marquis on March 2 nd ... will participate on a panel discussing the current state ... World of Biosimilars . For more ...
(Date:2/27/2015)... , Feb. 27, 2015   PureTech , a ... and commercializing disruptive products and technologies in the healthcare ... , former CEO and Member of the Board of ... "It,s has been a pleasure to know ... that we will be working together more closely now," ...
Breaking Biology Technology:Immunovaccine Disclaims Hoax Press Release 2Global Market Report of Trypsin 2014-2018 2Christopher Viehbacher, former CEO of Sanofi, Joins PureTech's Board of Directors 2Christopher Viehbacher, former CEO of Sanofi, Joins PureTech's Board of Directors 3Christopher Viehbacher, former CEO of Sanofi, Joins PureTech's Board of Directors 4
... 29 Core Informatics announces,that it has delivered ... BioRelix Pharmaceuticals of New Haven, CT. BioRelix, which ... to establish a,strong data management infrastructure from the ... marketplace, BioRelix choose the Core LIMS., "After ...
... REDWOOD CITY, Calif., April 29 Genomic,Health, Inc. (Nasdaq: ... call and webcast on Tuesday, May 6, 2008 at 4:30 ... The call and,webcast will follow the release of the first ... To access the live conference call on May 6 at ...
... the,international life sciences investment group, today announced the,appointment ... based at the Company,s,offices in Waltham, MA, USA ... efforts in growth equity, which will include expansion ... and life,science companies. Abingworth plans to invest from ...
Cached Biology Technology:Core Informatics Delivers Enterprise Core LIMS Installation to BioRelix Pharmaceuticals 2Genomic Health to Announce First Quarter 2008 Financial Results and Host Conference Call on Tuesday, May 6, 2008 2Abingworth Appoints David Mayer as Partner 2
... High Performance, 5 ml. The same ... HiTrap Streptavidin columns for fast, reliable ... into Tricorn 5/50 GL, XK 16/20, ... purifications are required.Extremely useful for exploiting ...
...
...
Request Info...
Biology Products: