The activation of certain genes known to cause the unusual MSL3 syndrome in children is regulated by a new family of DNA elements. Researchers from Queen Mary University of London conducted the study, which was published today in the journal Structural & Molecular Biology. They hope that by shedding new light on the disease process, it may eventually help develop better therapies for this and other disorders of a similar nature.
Mutations in the MSL3 gene are known to cause a rare disease in children called MSL3 syndrome a newly discovered disease with only about 50 registered diagnoses worldwide, although scientists predict that more cases are currently undiagnosed.
It is a disease that desperately needs attention. The mechanism by which MSL3 mutations lead to this syndrome is unknown. There is only one previous study that has discovered this disease gene, but it is not clear why mutations in MSL3 cause this disorder.
The researchers discovered that a family of mobile DNA known as LINE1 elements could act as a switch to turn certain genes on. Scientists previously thought that the MSL3 complex regulated 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 disorders of genes involved in development. The developmental genes are intact, but the program that determines how the genetic information will be fine-tuned is disrupted. 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 of them are immobile and do no harm.” We only know the tip of the iceberg about how host species use this DNA-like virus to our own advantage,” said lead author Dr Pradeepa Madapu.
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