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MIDLAND: City University Team Makes Breakthrough in Genetic Disease

Posted on: Monday, 16 January 2006, 06:00 CST

By Emma Brady Health reporter

Scientists have made a genetic breakthrough which could lead to a cure for a rare but fatal condition that affects unborn babies.

An international team led by the University of Birmingham has identified a defective gene for Meckel-Gruber syndrome, an inherited condition that severely impedes development of the foetus's brain, liver and kidneys.

When it is not defective, the newly-identified gene - called MKS3 - plays an important role in the development of these organs.

Researchers believe this discovery could also help identify other conditions, such as spina bifida.

The study was published on-line yesterday in the journal Nature Genetics.

Although Meckel-Gruber syndrome affects around one in 200,000 births, where both parents carry the defective gene there is a one in four chance of a baby being born with the condition.

Affected babies usually survive for only a few hours after birth.

The identification of the Meckel-Gruber gene will now lead the way towards more effective screening of parents with a family history of the disease.

Researchers at the university's Department of Medical and Molecular Genetics collaborated with the Indiana University School of Medicine and Mayo Clinic, both in the US.

They worked with a number of families across the West Midlands who had a history of Meckel-Gruber in their search for genetic clues to the disease.

More than 20 genes were identified and sequenced, without success, before scientists pinpointed the defective gene which causes the condition.

Dr Colin A Johnson, who led the research, said: "Identifying mutations in this gene that are responsible for Meckel-Gruber syndrome should make screening for this devastating genetic condition far easier.

"We also hope that understanding the genetic mechanisms that cause Meckel-Gruber syndrome will help us to more fully understand common birth defects, such as spina bifida."

Sheila Brown OBE, chief executive of BDF Newlife - who backed the research - said: "The incidence of this condition means that a child with the syndrome will be born approximately every 11 days in the UK.

"Newlife is proud to have supported this important breakthrough with the excellent research team at Birmingham."

Meckel-Gruber syndrome is generally picked up by an ultrasound scan between the 12th and 20th weeks of pregnancy.

FACTFILE

Both parents must carry copies of the defective gene for their child to develop the Meckel-Gruber syndrome

Research has also found that the incidence of the disease can vary between different populations

Meckel-Gruber syndrome causes specific physical malformations:

a) kidneys may have cysts on them (polycystic)'

b) the infant's "soft spot" (fontanel) is too big, allowing brain and spinal fluid to bulge out (encephalocele)'

c) kidneys and liver do not develop properly in the foetus

Source: Birmingham Post; Birmingham (UK)

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