New genetic cause of children's liver disease discovered

March 11, 2014
New genetic cause of children's liver disease discovered

(Medical Xpress)—The discovery of a 'faulty gene' in children with liver disease could pave the way for new treatments for children with a range of serious and life-threatening liver conditions.

The findings – published on Sunday, 9 March in Nature Genetics – follow two years of research by doctors and scientists at King's College London and King's College Hospital, both part of King's Health Partners AHSC.

Cholestatic liver disease (CLD) describes a number of conditions caused by impairment of bile formation, or bile flow. Normal bile production is essential for absorption of food and the body's ability to dispose of waste. CLD can be fatal, and many patients require . At least 12,000 people suffer from CLD in the UK.

Using the latest gene sequencing technology, the team at King's discovered that 12 patients with CLD had a mutation in both copies of the TJP2 gene, which means it doesn't produce the TJP2 protein.

This discovery of a new disease, called 'TJP2 deficiency', is a significant breakthrough. Crucially, it now means liver experts understand the mechanism underlying the disease, and can start treatment earlier and in a targeted fashion.

Dr Richard Thompson, a paediatric liver specialist at King's who led the research, said the findings should increase our understanding of the way other types of liver disease develop. He said:

'This is extremely exciting. By understanding the disease better, we are a step closer to one day finding a cure. In the short-term, it also makes the disease much easier to diagnose –we have gone from basic science discovery to routine diagnostic testing in less than a year, which is amazing. Crucially, this means we can start logical treatment for the disease sooner. The basic principles of the discovery could also be applied to other, more common forms of liver disease, which is also very exciting.'

King's, a major centre for the treatment of adult and paediatric , is one of three centres currently trialling a new drug for the treatment for CLD in children.

Explore further: Novel potential approach to prevent infection in patients with liver failure

More information: "Mutations in TJP2 cause progressive cholestatic liver disease." Melissa Sambrotta, et al. Nature Genetics (2014) DOI: 10.1038/ng.2918. Received 21 September 2013 Accepted 14 February 2014 Published online 09 March 2014

Related Stories

Novel potential approach to prevent infection in patients with liver failure

January 9, 2014
Findings published in the American Association for the Study of Liver Diseases journal, Hepatology, indicate that infection, the commonest cause of mortality in patients with acute liver failure (ALF), may be decreased by ...

British team perform new 'warm' liver transplants

March 15, 2013
British surgeons said Friday they have performed successful liver transplants on two patients using a revolutionary technique which keeps the organ warm and functioning while outside the body.

NSAID use linked to reduced hepatocellular carcinoma risk and mortality due to chronic liver disease

November 28, 2012
Researchers found that aspirin use is associated with a decreased risk of developing hepatocellular carcinoma and death from chronic liver disease (CLD), according to a study published November 28 in the Journal of the National ...

FDA reports Samsca may cause liver damage

May 2, 2013
(HealthDay)—After reviewing data from recent large clinical trials, the U.S. Food and Drug Administration has determined that Samsca (tolvaptan) should not be used for longer than 30 days and should not be used at all by ...

Mini-livers show promise to reduce animal use in science

February 26, 2014
Research that has for the first time successfully grown "mini-livers" from adult mouse stem cells has won the UK's international prize for the scientific and technological advance with the most potential to replace, reduce ...

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 discovered gene variants link innate immunity and Alzheimer's disease

July 17, 2017
Three new gene variants, found in a genome wide association study of Alzheimer's disease (AD), point to the brain's immune cells in the onset of the disorder. These genes encode three proteins that are found in microglia, ...

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.