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Jumping genes linked to a rare syndrome in children

2023 Jun 13, 14:59, London [UK]
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The activation of certain genes known to cause the uncommon illness MSL3 syndrome in children is regulated by a novel family of DNA elements.

Researchers at Queen Mary University of London conducted the study, which was published today in kind Structural & Molecular Biology. They hope that shedding fresh light on the disease's process can eventually help develop better therapies for this and other disorders of a similar kind.

Mutations in the MSL3 gene are known to cause a rare disease in children called MSL3 syndrome - a newly discovered disease with only around 50 registered diagnoses worldwide, although scientists predict that more cases are currently undiagnosed.

It is a disease that is in desperate need of attention. The mechanism through which MSL3 mutations lead to this syndrome is not known. There is only one previous study which discovered this disease gene, but it is not clear why mutations in MSL3 cause this disorder.

The researchers identified that a family of mobile DNA known as LINE1 elements could function as a switch to turn on certain genes. Researchers previously thought that the MSL3 complex regulates genes directly. This research shows that the MSL3 complex regulates genes by activating these mobile DNA elements.

Mutations in the MSL3 gene can lead to perturbation of genes involved in development. The developmental genes are intact, but the programme that determines how the genetic information will be fine-tuned is impaired. This could lead to a global delay in the development of multiple organs, including the brain.

"Although these DNA elements are popularly known as jumping genes, most are immobile and not harmful. We only know the tip of the iceberg about how host species are using this virus-like DNA to our own advantage," said lead author Dr Pradeepa Madapura.


Genes DNA mutations dna elements developmental genes MSL3 syndrome molecular biology
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