Unlocking the mystery of Down’s syndrome and diabetes
Latest DRWF-funded research offers a big step forward in understanding the connection.
Professor Kathleen Gillespie, Professor of Molecular Medicine, University of Bristol, was awarded an £18,000 Pump Priming Grant for the study Does a leaky gut increase the risk of diabetes in children with Down’s syndrome?
Introduction
While most people are familiar with Down’s syndrome, many are unaware that children with the condition are four times more likely to develop type 1 diabetes. In addition, when they do, it tends to strike earlier in their lives.
People with Down’s syndrome have an additional copy of chromosome 21; however, from available previous research it has not been clear why this causes them to be at such a heightened risk for developing diabetes.
A DRWF-funded study of 116 babies with Down’s syndrome, led by Professor Kathleen Gillespie in Bristol, set out to explore the connection.
For parents and guardians of children with Down’s syndrome, the findings could offer invaluable insights.
Key findings of the study
- Presence of specific antibodies
The research found that antibodies to bovine serum albumin (BSA), a food antigen, were more prevalent in children with Down’s syndrome. Simply put, these antibodies might indicate an increased gut permeability or “leaky gut,” which some theories suggest might be related to autoimmunity and the development of type 1 diabetes.
- Genetic predisposition
Interestingly, children with Down’s syndrome and diabetes possess fewer genetic risk factors for type 1 diabetes compared to age-matched children without Down’s syndrome. This challenges our understanding of the usual genetic predispositions for diabetes.
- Increased autoimmunity to insulin
Children with Down’s syndrome exhibited a heightened autoimmunity to insulin, another indicator of their increased risk of type 1 diabetes.
The research has reinforced the understanding that children with Down’s syndrome are more susceptible to type 1 diabetes and other autoimmune conditions like thyroid autoimmunity. It has further deepened the knowledge on the unique ways this vulnerability manifests in Down’s syndrome compared to the general population.
Why are these findings important?
Knowing that children with Down’s syndrome have a higher propensity for type 1 diabetes provides an avenue for early intervention and tailored healthcare. Beyond that, these findings might give clues about the broader mechanics of diabetes and autoimmunity.
Implications and future directions
For decades, autoimmunity in children with Down’s syndrome was a niche topic. However, over the past five years, the scientific community’s interest in understanding the unique health profile of Down’s syndrome has surged.
There are suggestions that children with Down’s syndrome have a heightened response to interferons – proteins that play a critical role in our immune reactions.
This heightened response might be the key to their increased risk of autoimmunity. Moreover, this could also explain why some children with Down’s syndrome develop autoimmune reactions while others do not.
The research journey was not without its challenges. The study faced a temporary halt due to Covid-19. However, this time was productively used for genetic analysis.
The researchers also encountered difficulties with certain laboratory tests, particularly the fatty acid binding protein 3 test. However, they are committed to overcoming these challenges and reattempting the test.
Looking forward, the research team is gearing up to answer a critical question:
Why do some Down’s syndrome children develop autoimmunity while others do not?
This is at the heart of an upcoming grant application and is set to become a focal point for future studies.
Conclusion
The puzzle of Down’s syndrome and diabetes is complex, but we are starting to fit the pieces together. This study has shed light on some critical aspects of why these children are at a higher risk for type 1 diabetes.
As research progresses, we are not only understanding Down’s syndrome better but also getting deeper insights into the enigma that is diabetes.
For children with Down’s syndrome and their families, this knowledge offers hope and a path to better, more-informed care.
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