A DNA discovery by Scottish scientists could help shed light on a rare but disabling childhood syndrome.
Cornelia de Lange Syndrome (CdLS) can cause impaired development, twisted bowels and missing hands and fingers.
Now researchers have moved a step closer to finding out the cause of CdLS which affects one in 10,000 youngsters.
The fresh analysis of how our cells store and manage DNA when they undergo cell division give valuable insights.
It may help scientists understand how genes are turned on in a process linked to CdLS - a severe condition that thwarts physical and intellectual development in children.
The team showed how proteins in cells work together to package DNA and ensure that it is correctly passed on - in the form of parcels called chromosomes - to new cells that are formed during cell division.
Researchers from the University of Edinburgh and Harvard University set out to better understand how the proteins that carry out these complex tasks work together.
Their study published in Cell built on previous research that examined how yeast cells - which are used as model organisms - are able to carry out cell divisions without errors.
It applied imaging technology and genetic analysis to yeast cells to map the molecular interactions involved.
The findings show how proteins associated with chromosomes work to set up an environment that ensures careful maintenance of the genetic material.
These proteins carry out a strategy in which biochemical components in the cell designate sections of DNA at which proteins are recruited to organise the genetic material. The results showed the importance of careful timing in this series of steps.
Dr Adele Marston, of the University of Edinburgh’s School of Biological Sciences, who took part in the study, said: “For the first time, we’ve been able to demonstrate biological mechanisms that underpin the organisation of specific pieces of DNA at the right time.
“This is a vitally important process for healthy cell division and to ensure that our genetic material functions correctly."
Among the sufferers is Katie Brundrett, three, from York, whose parents Danielle and Kevin Brundrett launched a campaign to raise funds for her treatment after discovering she had the disease.
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