Leukaemia In People With Down Syndrome: What You Need to Know

How additional chromosome 21 in down's syndrome can promote a blood cancer type called acute myeloid leukemia (AML) has been demonstrated with the help of genetic scissors (CRISPR-Cas9). The findings were published in the journal Blood.

Leukemia is a broad term for cancer of the body's blood-forming tissues, including the bone marrow and the lymphatic system.The type of leukemia depends on the type of blood cell that becomes cancer and whether it grows quickly or slowly.Some forms of leukemia are more common in children.

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‘The RUNX1 gene is responsible for the chromosome’s specific carcinogenic properties in the case of down's syndrome with trisomy 21.’

Like all cancers, leukemia is caused by changes in the DNA, the heredity material present in human cells in the form of 46 chromosomes. In many forms of leukemia, large parts of these chromosomes are altered.

People with Down syndrome, who have three copies of chromosome 21 (trisomy 21) are highly vulnerable: the risk of developing aggressive Acute Myeloid Leukaemia (AML) in the first four years of their life is more than 100 times greater for children with Down syndrome. Down syndrome is the most common congenital genetic disorder, affecting about one in 700 newborn babies.

RUNX1: Responsible for Leukaemia in Down’s Syndrome

Now, a research group has discovered how the additional chromosome 21 can promote AML. Researchers examined each of the 218 genes on chromosome 21 for its carcinogenic effect.

It emerged that the RUNX1 gene is responsible for the chromosome’s specific carcinogenic properties. In further analyses, they were able to corroborate that only one variant – or isoform – of the gene promotes the development of leukemia.

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Other RUNX1 isoforms were even able to prevent the cells from degenerating. This explains why RUNX1 has so far not stood out – in several decades of extensive cancer research.

The RUNX1 gene encodes a “transcription factor” – a protein responsible for regulating the activity of other genes. RUNX1 regulates many processes, including embryonic development and early and late hematopoiesis, or blood formation.

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Disruption of this important regulator is therefore a key event in the development of AML. The study underlines how important it is to examine all gene variants in carcinogenesis. In many cases, certain mutations in cancer cells alter how these variants form.

Development of More Sophisticated Therapeutic Approaches

These insights are important for a better understanding of the complex mechanisms of carcinogenesis. In this way, they have laid the groundwork for developing more sophisticated therapeutic approaches.

Through their biochemical analyses, we now know exactly how the gene variant alters the blood cells. From there, we were able to use specific substances that block the disease mechanism.

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The intention now is to further explore the effect of these substances for use in medical care. Based on our expertise, we now want to develop therapies to correct this malfunction. Applying them in clinical practice will certainly take a few more years, but hopefully, they will lead in the future to sparing our young patients from intensive chemotherapy.

Source-Eurekalert