Study discovers link in childhood brain disease research

Jun 16, 2009

University of Manchester scientists at the National Institute for Health Research Manchester Biomedical Research Centre (BRC) have discovered a new link between a rare childhood disorder and a common immune system disease.

Over the last 10 years Professor Yanick Crow and an international team of colleagues have studied the inflammatory Aicardi-Goutičres syndrome (AGS). Some children with AGS also develop an early-onset form of the autoimmune disorder systemic lupus erythematosus (SLE).

The researchers previously discovered that mutations in four genes caused AGS. These genes provide the instructions for making nucleases, a type of protein which cleans up ‘waste’ nucleic acids produced during the normal life-cycle of our cells. A failure of this clean-up process causes waste DNA and other material to accumulate in cells. The immune system then mistakes this material as ‘foreign’ and attacks it.

Professor Crow, based in the School of Clinical and Laboratory Sciences, said: "We have now identified mutations in a fifth gene, accounting for approximately 20% of AGS cases. This result is important because it will allow for confirmatory genetic testing in children with suspected AGS, and the opportunity of genetic testing during pregnancy for affected families. Additionally, our data adds a previously unknown component to the puzzle of how the innate immune response is triggered in AGS and lupus.

"Further studies of this gene will increase our understanding of the precise mechanisms involved in causing AGS and SLE, and thus allow us to develop precisely targeted therapies for these devastating disorders. This is work that is ongoing in our BRC-supported laboratory."

The importance of the discovery linking the causes of AGS and SLE has led to the team's findings being published in the leading international magazine Nature Genetics.

Source: University of Manchester (news : web)

Explore further: New gene technique identifies previously hidden causes of brain malformation

add to favorites email to friend print save as pdf

Related Stories

Lupus gene finding prompts call for more DNA samples

Dec 02, 2007

Wellcome Trust researchers have identified a key gene involved in the disease Lupus, which affects around 50,000 people in the UK, mostly women. The lead researcher behind the study has called for more patients to volunteer ...

Scientists have solved a genetic problem

Jun 16, 2009

Researchers at the Universities of Manchester and Birmingham have solved a genetic problem that causes the accumulation of male hormones - called androgens - in women.

Rituximab reduces kidney inflammation in patients with lupus

Mar 04, 2009

Treatment with the targeted drug rituximab can significantly benefit some patients with severe lupus nephritis who do not respond to conventional therapy, according to a study appearing in an upcoming issue of the Clinical Jo ...

Recommended for you

Gene therapy protects mice from heart condition

Aug 20, 2014

A new gene therapy developed by researchers at the University of Missouri School of Medicine has been shown to protect mice from a life-threatening heart condition caused by muscular dystrophy.

Study finds crucial step in DNA repair

Aug 18, 2014

Scientists at Washington State University have identified a crucial step in DNA repair that could lead to targeted gene therapy for hereditary diseases such as "children of the moon" and a common form of ...

User comments : 0