Down's chromosome affects all other chromosomes

accreditation
iStock

The extra copy of Chromosome 21 that causes Down's syndrome throws a spanner into the workings of all the other chromosomes as well, said a study that surprised its authors.

Using data from a set of twins, one with Down's and one without, researchers found a major difference in how genes functioned between the two.

The twins were born from a single egg that split, which means their DNA code started off identical.

Read: 10 Down syndrome facts

Knock-on effect

But the individual with Down's had an extra copy of Chromosome 21 – a difference enabling the scientists to see how this might affect the same genome.

The additional chromosome had a knock-on effect on all the 22 other chromosomes, the team reported in the journal Nature.

"We were very surprised by this finding," said Audrey Letourneau of the University of Geneva Medical School who co-authored the study.

"It seems that this small, extra chromosome has a major influence on the entirety of the genome."

Chromosomes are made up of bundles of DNA called genes, which hold the information for cell function.

Humans have 23 pairs of chromosomes – or a total of 46 per cell.

Genetically caused mental disease

People with Down's Syndrome, about one in every 750, have a third, extra Chromosome 21 – the smallest of all the chromosomes with about1% of the DNA in a cell.

Down's is the world's leading genetically-caused mental disease, and also carries a heightened risk of heart defects, leukaemia, immune-system malfunction and premature Alzheimer's disease.

The results may help researchers "find substances that could reverse this gene-expression dysregulation, i.e. drugs that revert the expression of genes... back to normal," co-author Stylianos Antonarakis told AFP.

Read more:
Could Down Syndrome be reversed?
New Down syndrome theory

Early testing effective for Down Syndrome

We live in a world where facts and fiction get blurred
In times of uncertainty you need journalism you can trust. For 14 free days, you can have access to a world of in-depth analyses, investigative journalism, top opinions and a range of features. Journalism strengthens democracy. Invest in the future today. Thereafter you will be billed R75 per month. You can cancel anytime and if you cancel within 14 days you won't be billed. 
Subscribe to News24
Editorial feedback and complaints

Contact the public editor with feedback for our journalists, complaints, queries or suggestions about articles on News24.

LEARN MORE