New genetic cause of children's liver disease discovered

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.

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

add to favorites email to friend print save as pdf

Related Stories

Toxic bile damages the liver

Oct 24, 2008

Researchers at the Heidelberg University Hospital have discovered a new genetic disease that can lead to severe liver damage. Because a protective component of the bile is missing, the liver cells are exposed to the toxic ...

British team perform new 'warm' liver transplants

Mar 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.

FDA reports Samsca may cause liver damage

May 02, 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 ...

Recommended for you

Right environment could improve stem cell therapies

Oct 23, 2014

Stem cell therapies are being hailed as a potential cure for many major health conditions, but there is much still to learn about the highly complex environments needed to optimise these therapies, according to researchers ...

User comments