Gene For Disease of Infants Identified
Excerpt By Melissa Schorr, Reuters Health Writer

NEW YORK (Reuters Health) - German neurologists have reported the identification of a genetic mutation that can cause suffocation in infants.

The disease, called spinal muscular atrophy with respiratory distress type I (SMARD1), is a form of a common disorder known simply as spinal muscular atrophy, where damaged nerve cells surrounding the spinal cord causes loss of muscle movement known as ``floppy baby.''

In SMARD1, however, the muscles of the diaphragm, which control breathing, also become paralyzed, causing life-threatening suffocation.

The disease is often mistaken for sudden infant death syndrome (SIDS), said lead author Dr. Christoph Hubner of the department of neuropediatrics at Humboldt University in Berlin, because it affects infants 4 to 18 weeks old, who suddenly stop breathing.

The researchers examined DNA from 21 relatives in six families affected by the disease. All 11 of the children with the disease had severe mutations on the gene, while 9 unaffected children had normal versions of the gene, according to the report published in the advance online publication of the September issue of Nature Genetics.

The gene is present from birth and is recessive, which means an infant must have two copies, one inherited from each parent, in order to develop the disease, Hubner explained.

A gene causing the disease spinal muscular atrophy has already been identified. The added identification of this second gene linked to SMARD1 may provide some clues why mutations in these genes affect nerve cells in the spinal cord, the researchers report.

SOURCE: Nature Genetics (advance online publication) 2001;DOI:10.1038/ng703.

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