Corporate Banner
Satellite Banner
Genomics
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Found in Amish a Genetic Mutation Causing Mental Retardation Very Similar to Angelman Syndrome

Published: Wednesday, March 20, 2013
Last Updated: Wednesday, March 20, 2013
Bookmark and Share
It is the first time that associates a mutation in HERC2 with human disease.

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 José 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 and concentration. "We observed", explains Rosa, "that there must be a common genetic cause."
 
Genetic studies of fifteen Individuals of Old Order Amish Community in Ohio (USA) 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 José 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 José 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.


Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,500+ scientific posters on ePosters
  • More than 3,700+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Keeping Growth in Check
Ribosomal proteins RPL5 and RPL11 play an essential role in normal cell proliferation.
Friday, December 13, 2013
Key Role of a Protein in the Segregation of Genetic Material During Cell Division
Researchers at IDIBELL have reported an article which delves into the regulator mechanisms of mitosis.
Wednesday, December 11, 2013
Discovered a Mechanism that Induces Migration of Tumor Cells in Liver Cancer
Coordinated overactivation of TGFb and CXCR4 signaling pathways confer migratory properties to the hepatocellular carcinoma cells.
Wednesday, November 06, 2013
Researchers Discover the Genetic Signature of Highly Aggressive Small Lung Tumors
A study conducted by the IDIBELL allows to identify this type of cancer at an early stage and adapt the treatment.
Thursday, October 03, 2013
Discovered Epigenetic Alterations in the Brain of Alzheimer's Patients
Alzheimer disease is becoming a major health problem in Western societies, exacerbated by the progressive aging of the population.
Monday, September 16, 2013
High Levels of RANK Protein Interferes with the Differentiation of Mammary Cells
Levels of this protein increase with age, which could explain the increase in breast cancer risk associated with age.
Wednesday, September 11, 2013
The Epigenome Differentiates the Different Human Populations
Establishing what differentiates us from our neighbors, our friends or strangers from distant countries.
Monday, August 05, 2013
Discovered a Future Therapeutic Target for Lung Cancer Treatment
One of the goals of research in cancer genetics and molecular biology is to get an "on demand" treatment, with maximum effect and minimal toxicity.
Monday, July 22, 2013
Brain Epigenome Changes from Birth to Adolescence
Experience of parents with their children and teachers with their students demonstrate how kids change their behaviours and knowledge from childhood to adolescence.
Friday, July 05, 2013
Discovered the Role of Noncoding 5S rRNA in Protecting the p53 Tumor Suppressor Gene
Over 50% of tumors are associated with mutations in p53.
Thursday, July 04, 2013
A Gene Conserved from Worms to Humans Opens the Door to new Therapeutics
Gene shows promising therapeutic strategies in cancer and in some types of blindness.
Friday, June 21, 2013
An Epigenetic Change Causes the Block of Antitumor Genes
Healthy cells live in a delicate balance between growth-promoting genes (oncogenes) and those who restrain it (anti-oncogenes or tumor suppressor genes).
Wednesday, June 12, 2013
Identified a Key Protein in Maintaining the Identity of B Lymphocytes
This finding could be useful for the study of blood diseases such as lymphoma and leukemia.
Monday, June 10, 2013
Epigenetic Mechanism through which Protein SirT2 Regulates Cell Cycle Progression and Genomic Stability
The study of IDIBELL researchers confirms antitumor properties of sirtuin 2.
Wednesday, March 20, 2013
Manel Esteller, ''if the Alphabet is Genetics, Spelling is Epigenetics''
Why don’t identical twins have the same disease at the same time? Why do two cats who share the same DNA have different spots? The answer is in epigenetics.
Friday, November 30, 2012
Scientific News
Liquid Biopsies: Utilization of Circulating Biomarkers for Minimally Invasive Diagnostics Development
Market Trends in Biofluid-based Liquid Biopsies: Deploying Circulating Biomarkers in the Clinic. Enal Razvi, Ph.D., Managing Director, Select Biosciences, Inc.
Watching a Tumour Grow in Real-Time
Researchers from the University of Freiburg have gained new insight into the phases of breast cancer growth.
Childhood Cancer Cells Drain Immune System’s Batteries
Cancer cells in neuroblastoma contain a molecule that breaks down a key energy source for the body’s immune cells, leaving them too physically drained to fight the disease.
Urine Proteins Point to Early-Stage Pancreatic Cancer
A combination of three proteins found at high levels in urine can accurately detect early-stage pancreatic cancer, researchers at the BCI have shown.
Researcher Discovers Trigger of Deadly Melanoma
New research sheds light on the precise trigger that causes melanoma cancer cells to transform from non-invasive cells to invasive killer agents, pinpointing the precise place in the process where "traveling" cancer turns lethal.
Genetic Tug of War
Researchers have reported on a version of genetic parental control in mice that is more targeted, and subtle than canonical imprinting.
Error Correction Mechanism in Cell Division
Cell biologists have reported an advance in understanding the workings of an error correction mechanism that helps cells detect and correct mistakes in cell division early enough to prevent chromosome mis-segregation and aneuploidy, that is, having too many or too few chromosomes.
How to Become a Follicular T Helper Cell
Uncovering the signals that govern the fate of T helper cells is a big step toward improved vaccine design.
Researchers Resurrect Ancient Viruses
Researchers at Massachusetts Eye and Ear and Schepens Eye Research Institute have reconstructed an ancient virus that is highly effective at delivering gene therapies to the liver, muscle, and retina.
Cell Aging Slowed by Putting Brakes on Noisy Transcription
Experiments in yeast hint at ways to extend life of some human cells.
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,700+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!