Jeans for Genes Week!
This week (13th-19th September) is Jeans for Genes week, so we are taking a look at some of the amazing genetic research the NIHR BioResource has supported.
In today's post we look at a study that discovered that repeated sections of DNA were linked to neurological disease.
What is the DNA code and what does it mean?
The DNA code is made up of four chemicals known as ‘bases’: these are Adenine, Thymine, Cytosine and Guanine, or A,T,C,G for short. These bases are paired up in your DNA, A with T and C with G.
Your DNA code or genome is made up of 3.5 billion of these base pairs, organised into sections called genes. When we talk about ‘sequencing’ DNA, it is literally looking at the sequence or order these bases come in i.e. GAG CCC TCA ATC AGG CAT ACC.
These genes are the instructions on which our whole body functions!
Changes or ‘mutations’ in the DNA can lead to disease
One of these changes is a ‘CGG’ repeat. Where the DNA has a section of repeats of the C and G bases e.g. CTA CGG CGG CGG CGG CGG CGG CGG ATT, inserted into the original code. This can have a drastic effect on the proteins that the DNA codes for, which can disrupt the way the body functions.
Could CGG repeats be causing neurological disorders?
In a study supported by the NIHR BioResource, Researchers from Belgium and Cambridge looked at these CGG repeats. They wondered if they appeared elsewhere in the genome causing neurological disorders. To investigate this, they sequenced the genomes of 544 volunteers and they detected over 6,000 new CGG repeats.
A large number of these new repeats were found within genes that were already linked with intellectual disability and autism. The researchers realised that these repeats may be a much larger disease risk than previously thought.
By increasing our knowledge of these genetic changes and the diseases they cause, we can help to find better diagnoses and treatments.
Read the full paper here.
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