Gene discovery offers insight into spina bifida

November 19, 2001

Researchers may be a step closer to understanding the reasons behind a class of devastating birth abnormalities, thanks to a study published today in the journal Human Molecular Genetics.

A team of scientists led by Dr Philip Stanier at Imperial College and Professor Andrew Copp at the Institute of Child Health, University College London, have identified a novel gene that provides the first information on the genetic basis of a severe form of spina bifida known as craniorachischisis.

Spina bifida is one of the commonest birth defects, affecting 1 in 1000 pregnancies. At its most severe, it can result in stillbirth or death within a few hours or days of birth. In milder cases, babies may have limb paralysis and incontinence.

Spina bifida arises in the early stages of pregnancy when the part of the fetus that forms the brain and spinal cord, the neural tube, fails to close properly. The similarity of this closure process in mice and humans, allowed the team to study the development of spina bifida in a naturally occurring mouse strain.

Dr Philip Stanier from the Institute of Reproductive and Developmental Biology at Imperial College's Hammersmith campus said: "We have identified the gene that is mutated in the loop-tail strain of mice. These mice develop the severe form of spina bifida closely resembling that seen in humans."

"Although folic acid supplementation can reduce the occurrence of many cases of spina bifida, understanding the mode of action of the loop-tail gene may provide the key to identifying further therapies that will prevent this devastating disorder", he said.

Previous studies had identified the region on Chromosome 1 where the loop-tail gene was thought to be located. Using genetic analysis, a copy of the region's genomic sequence was created. Twelve candidate genes were identified, eleven of which were shown to be expressed during neural tube formation. By comparing the genetic sequence of the genes in the loop-tail mouse with that of the normal mouse, a mutation in a newly identified gene, Lpp1, was revealed.

Professor Andrew Copp said: "Our identification of the loop-tail gene is a key finding which will aid in understanding the developmental pathway that regulates neural tube closure. The long term aim of our research is to develop new methods for preventing spina bifida, by treating the embryo as it develops during pregnancy."
The research was supported by grants from EBM Charitable Trust, SPARKS, the Welton Foundation, the Medical Research Council, the European Union, the Birth Defects Foundation, the Dunhill Medical Trust and the Wellcome Trust.

Notes to editors

1. The research is published in the scientific journal, Human Molecular Genetics on 20 November Title: Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification .Authors: Jennifer N. Murdoch1*, Kit Doudney2*, Caroline Paternotte1*, Andrew J. Copp1=A7 and Philip Stanier2 1 Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK.

2 Department of Maternal and Fetal Medicine, Institute of Reproductive and Developmental Biology, Imperial College School of Medicine, Hammersmith Campus, London, W12 0NN, UK.

3. Imperial College of Science, Technology and Medicine is an independent constituent part of the University of London. Founded in 1907, the College teaches a full range of science, engineering, medical and management disciplines at the highest level. The College is the largest applied science and technology university institution in the UK, with one of the largest annual turnovers (UKP339 million in 1999-2000) and research incomes (UKP176 million in 1999-2000). Web site at

Imperial College London

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