Navigation Links
Variations of a single gene can lead to too much or too little growth, study shows
Date:5/27/2012

A gene previously linked to too much growth in patients has now also been linked to growth restriction. Different forms of the gene can lead to very different conditions, according to research published today in the journal Nature Genetics.

IMAGe* syndrome is a rare developmental disorder which can affect foetal growth, resulting in smaller than average body and organ size. Without treatment, the disorder can have potentially life-threatening consequences from adrenal gland failure.

The condition was first identified twenty years ago by Eric Vilain, then a researcher in France. Now, Professor Vilain and colleagues at the University of California, Los Angeles, together with researchers at the UCL Institute of Child Health in the UK, have identified the disorder as being caused by a particular mutation of a gene known as CDKN1C, found on chromosome 11. They made their discovery after analysing DNA samples from an Argentinian family affected by IMAGe syndrome, together with existing samples from patients collected over the past two decades.

Scientists have known for some time now that CDKN1C plays an important role in regulating cell growth. Mutations of this gene have been previously associated with an 'overgrowth' syndrome called Beckwith-Wiedemann syndrome, which causes large body parts and large organs and carries an increased risk of tumours. The link with IMAGe is the first time that the gene has been associated with growth restriction.

"We discovered a mutation in chromosome 11 that consistently appeared in every family member affected by IMAGe Syndrome," explains Professor Vilain. "We were a little surprised, though, because the mutation was located on a gene previously recognised as causing Beckwith-Wiedemann Syndrome. Finding dual functions in one molecule is an unusual biological phenomenon. These two diseases are polar opposites of each other.

"The results are particularly special for me as we have finally been able to identify the cause of the condition that I first encountered twenty years ago. This is a big step forward and should help affected families in the future. We can now use gene sequencing as a tool to screen for the mutation and diagnose children early enough for them to benefit from medical intervention."

In fact, the researchers found that IMAGe syndrome was only associated with changes in the maternal CDKN1C gene. If only the copy of the gene inherited from the father carried the mutation, the child was unaffected. This process of 'switching on' genes differently depending on whether they are inherited from the mother or the father is known as 'imprinting'. Some scientists believe that imprinted genes have evolved to play an important role in how the foetus develops in the womb; a smaller foetus carries an advantage to the mother as it increases her chances of survival during childbirth, whilst the father's genes may work to increase the birth size and hence chances of survival of the offspring.

Dr John Achermann, a Wellcome Trust Senior Research Fellow at the UCL Institute of Child Health, UCL, says: "Our surprising finding shows that different changes in the same gene can lead to very different effects. The results give us clues not only in relation to growth during human development, but also to how cells grow and divide and lead to tumours."


'/>"/>
Contact: Craig Brierley
c.brierley@wellcome.ac.uk
44-207-611-7329
Wellcome Trust
Source:Eurekalert

Related biology news :

1. U of MN study shows link between gene variations and cancer survival
2. Scientists uncover new genetic variations linked to psoriasis
3. The genetics of fear: Study suggests specific genetic variations contribute to anxiety disorders
4. Study finds variations in 1 gene may be associated with endurance running
5. Variations on the genetic theme
6. Rare and common genetic variations responsible for high triglyceride levels in blood
7. Gene variations that alter key enzyme linked to prostate cancer
8. Shifting forms: Penn study shows how variations of same protein affect immune response
9. DNA sequence variations linked to electrical signal conduction in the heart
10. 2 genetic variations predict second cancers after radiation for children with Hodgkin lymphoma
11. BGI develops new strategy to uncover structural variations of human genomes
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/5/2017)... -- The Allen Institute for Cell Science today announces the ... and dynamic digital window into the human cell. The ... of deep learning to create predictive models of cell ... growing suite of powerful tools. The Allen Cell Explorer ... available resources created and shared by the Allen Institute ...
(Date:4/5/2017)... April 4, 2017 KEY FINDINGS ... expand at a CAGR of 25.76% during the forecast ... the primary factor for the growth of the stem ... https://www.reportbuyer.com/product/4807905/ MARKET INSIGHTS The global stem cell ... application, and geography. The stem cell market of the ...
(Date:4/3/2017)... 3, 2017  Data captured by IsoCode, ... detected a statistically significant association between the ... treatment and objective response of cancer patients ... predict whether cancer patients will respond to ... well as to improve both pre-infusion potency testing ...
Breaking Biology News(10 mins):
(Date:4/26/2017)... ... April 26, 2017 , ... Looking ... team-building and cooking events company, offers one-of-a-kind gifts, ranging from gourmet cooking experiences ... California cuisine, and guests leave inspired with new cooking tips and techniques, thanks ...
(Date:4/26/2017)... ... April 25, 2017 , ... LABS, Inc. (LABS) announced in December ... its extensive test menu: Nucleic Acid Testing (NAT) for ZIKV; and Enzyme Immunoassays (EIAs) ... to offer NAT screening for blood donors under an Investigational New Drug (IND) study ...
(Date:4/26/2017)... ... April 26, 2017 , ... As the call for ... industry stakeholders, the discussion surrounding the topic will continue at WEDI 2017- Driving ... Los Angeles, Calif. Hosted by the Workgroup for Electronic Data Interchange (WEDI), the ...
(Date:4/25/2017)... ... 25, 2017 , ... Franz Inc ., an early ... and market leader for Semantic Graph Database technology, today announced ... most effective system for developing and deploying applications to solve the challenges developers ...
Breaking Biology Technology: