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Gene clue to cot death

22 July 2004
By BioNews
Appeared in BioNews 268

US scientists have uncovered the genetic basis of a form of sudden infant death syndrome (SIDS) - or 'cot death' - associated with testes abnormalities. Team leader Dietrich Stephan says the findings, which will appear in the Proceedings of the National Academy of Sciences, could help save some babies at risk of sudden death.

The scientists studied nine families from an American Amish community, who between them had 21 babies who had died suddenly before the age of 12 months. They looked at DNA samples from four of the affected infants, and found that all had inherited two faulty versions of a gene called TSPYL. The researchers think the genetic change affects the control of the nervous system, which in turn causes severe heart and breathing problems.

Although several gene alterations are known to be linked with an increased risk of SIDS, this is the first gene identified that causes a primary form of cot death. The researchers, based at the Translational Genomics Research Institute in Phoenix, Arizona, have named the new form sudden infant death with dysgenesis of the testes (SIDDT). Baby boys with SIDDT may have underdeveloped testes, but baby girls appear normal, and have normal hormone levels. 'This is one of the first genetic sub-classifications of SIDS', said Stephan, adding that 'it's going to be helpful in offering parents answers for sudden infant deaths, recognising predisposition early, and hopefully saving a number of these babies'.

Although the study looked at SIDS in an isolated community, Stephan says that 'all of the disorders that are present in the Amish communities are also present in the general population, just at a lower frequency, both in the US and in the UK'. In 2002, a total of 342 British babies under the age of two died from SIDS.

The study also highlights the increasing speed with which new disease genes can be identified, using DNA 'chips', or microarrays, which enable researchers to look at thousands of different genetic variations at the same time. Using chip technology, the scientists say they pinpointed the TSPYL gene in less than two months.

Genetic disease link to cot death
BBC News Online |  19 July 2004
Report links cot death to gene fault
The Guardian |  20 July 2004
Researchers Identify Gene For A Primary Form Of Sudden Infant Death Syndrome (SIDS)
ScienceDaily |  20 July 2004
Scientists find genetic link in cot death puzzle
The Scotsman |  20 July 2004
18 March 2013 - by Antony Starza-Allen 
A genetic mutation linked to mental retardation has been identified in an Amish community in the USA....
10 September 2012 - by Dr Zara Mahmoud 
US researchers have identified the gene, Atoh1, as vital in mice for their ability to recognise dangerous levels of carbon dioxide in the bloodstream.
29 August 2006 - by Heidi Nicholl 
New research by scientists at Manchester University, UK, has shed further light on Sudden Infant Death Syndrome (SIDS). The research has found that babies with particular variants of three genes are up to 14 times more likely to succumb to the condition. The researchers, led by Dr...
2 February 2006 - by BioNews 
US researchers have identified a gene mutation linked to a 24-fold increased risk of sudden infant death syndrome (SIDS), or 'cot death', in African Americans. The team, based at the University of Chicago, says the altered form of the SCN5A gene makes infants vulnerable to 'environmental challenges' such as...
20 August 2004 - by BioNews 
Genetic mutations that affect vital body functions are linked to an increased risk of cot death, a new US study shows. Researchers at the Rush University Medical School in Chicago studied DNA from 92 babies who had died of sudden infant death syndrome (SIDS), and 92 healthy babies. They looked...
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