Faulty gene linked to condition in infants

December 12, 2012
Faulty gene linked to condition in infants

(Medical Xpress)—Researchers at King's College London have for the first time identified a defective gene at the root of Vici syndrome, a rare inherited disorder which affects infants from birth, leading to impaired development of the brain, eyes and skin, and progressive failure of the heart, skeletal muscles and the immune system.

Published in the journal Nature Genetics, the study identified a defect in the EPG-5 gene, indicating a of the condition which was previously unknown. Researchers at King's and Guy's & St Thomas' NHS Foundation Trust, part of King's Health Partners, analysed the DNA of 18 infants with Vici syndrome and identified the inactivity of EPG-5 as a major cause of the condition.

Infants born with Vici syndrome inherit two copies of the defective gene, one from each parent. Although there are only around 50 known cases of the disorder across the world, researchers believe the precise incidence is unknown due to lack of awareness of this condition. Dr Heinz Jungbluth, from the Children's Neuroscience Centre at St Thomas' Hospital, who led the study along with Professor Mathias Gautel from the Cardiovascular Division at King's, said: 'Vici syndrome is likely to be under-diagnosed as there is potential for misdiagnosis, particularly when you consider the many different organ systems affected by Vici and the significant overlap with other, more common disorders.'

The study also highlighted the 'autophagy' process and the role of EPG-5 in causing this mechanism to fail. Autophagy is a highly regulated cellular process that removes damaged or unwanted components, which is crucial for the health of all cell types, including those involved in muscles, the and brain development. Abnormalities in this process have been implicated previously in neurodegenerative conditions, but defects causing disorders of normal development such as Vici syndrome have rarely been reported. The researchers suggest that autophagy could play a key role in causing a range of disorders, offering the potential for treatment of other conditions. Dr Jungbluth said: 'Although the condition is very rare, it is likely that insights provided by research into Vici syndrome will also be transferable to the diagnosis and therapy of neurodegenerative and neurodevelopmental disorders, and a wider range of primary muscle conditions.'
   
Professor Gautel added: 'Having identified where this genetic defect occurs we are now able to explore potential interventions. For instance, there is the possibility of enhancing other pathways unaffected by the EPG-5 gene, or by preventing use of the defective pathway in the first place.'

As the is inherited from both the mother and father, there is also the possibility of screening families with a known history of Vici syndrome. Professor Gautel said: 'Mothers could be offered preimplantation diagnosis, which involves removing a cell from an embryo when it is around three days old and testing it for genetic disorders, so that an unaffected embryo can be implanted into the mother's womb, if necessary.'

Explore further: Genetic clue to common birth defects found

More information: www.nature.com/ng/journal/vaop … nt/full/ng.2497.html

Related Stories

Genetic clue to common birth defects found

May 12, 2011
Scientists at King's College London have, for the first time, uncovered a gene responsible for Adams-Oliver Syndrome (AOS), a condition which can cause birth defects of the heart, limbs, or blood vessels.

New gene that causes intellectual disability discovered

May 12, 2011
A new study involving Canada's Centre for Addiction and Mental Health (CAMH) has found a gene connected with a type of intellectual disability called Joubert syndrome.

Study finds new genes that cause Baraitser-Winter syndrome, a brain malformation

February 29, 2012
Scientists from Seattle Children's Research Institute and the University of Washington, in collaboration with the Genomic Disorders Group Nijmegen in the Netherlands, have identified two new genes that cause Baraitser-Winter ...

Studies in mice confirm that mutations in the gene, UBE3B, cause a rare genetic disorder in children

November 29, 2012
Researchers have defined the gene responsible for a rare developmental disorder in children. The team showed that rare variation in a gene involved in brain development causes the disorder. This is the first time that this ...

New throat cancer gene uncovered

March 8, 2012
Researchers at King's College London and Hiroshima University, Japan, have identified a specific gene linked to throat cancer following a genetic study of a family with 10 members who have developed the condition.

Recommended for you

Scientists provide insight into genetic basis of neuropsychiatric disorders

July 21, 2017
A study by scientists at the Children's Medical Center Research Institute at UT Southwestern (CRI) is providing insight into the genetic basis of neuropsychiatric disorders. In this research, the first mouse model of a mutation ...

Scientists identify new way cells turn off genes

July 19, 2017
Cells have more than one trick up their sleeve for controlling certain genes that regulate fetal growth and development.

South Asian genomes could be boon for disease research, scientists say

July 18, 2017
The Indian subcontinent's massive population is nearing 1.5 billion according to recent accounts. But that population is far from monolithic; it's made up of nearly 5,000 well-defined sub-groups, making the region one of ...

Mutant yeast reveals details of the aberrant genomic machinery of children's high-grade gliomas

July 18, 2017
St. Jude Children's Research Hospital biologists have used engineered yeast cells to discover how a mutation that is frequently found in pediatric brain tumor high-grade glioma triggers a cascade of genomic malfunctions.

Late-breaking mutations may play an important role in autism

July 17, 2017
A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...

Newly identified genetic marker may help detect high-risk flu patients

July 17, 2017
Researchers have discovered an inherited genetic variation that may help identify patients at elevated risk for severe, potentially fatal influenza infections. The scientists have also linked the gene variant to a mechanism ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.