When we know what exactly causes Coeliac disease & the Genes involved, why’s there difficulty in finding a cure?
In: Biology
The answer is that we actually don’t know exactly what causes Coeliac disease.
We have identified two [genetic changes](https://www.acpjournals.org/doi/10.7326/0003-4819-147-5-200709040-00003) that are strongly associated with Coeliac disease – 95% of Coeliac sufferers have these changes. But about 20% of people who don’t have Coeliac disease also have the same changes. So the genes themselves are not enough to cause the disease.
Furthermore, even if we were 100% sure it was only these genes that were causing the problem, we wouldn’t necessarily know *why*. The gene we’ve identified is instructions for how to make a specific cellular machine – ie. a protein. We have a good idea of what this protein does when it’s working correctly. It’s made in immune cells, and is part of the system of machines that our immune cells use to identify things that shouldn’t be in our bodies. So it makes sense that a mistake in building these machines would cause problems with that system.
However, we don’t know why the specific mistakes we know about cause these specific problems – or why they cause problems for some people, but not others. Basically, we have a good idea of where the problem is, but not what the problem is. We could try repairing the gene, but gene therapy is very very risky. Getting gene therapy wrong could mean fixing your Coeliac disease, but giving you another genetic problem (or worse, putting you at risk of cancer) in the process. This type of treatment is extremely young. I believe the first gene therapy product of any kind was approved only 4 years ago, and there’s only a handful of treatments on the market.
To top it off we don’t even know if fixing the gene associated with Coeliac disease would actually treat the disease. It’s possible that the gene changes set off Coeliac disease, but aren’t necessary to keep the disease ‘active’. That gene might be like a match for a fire. Once the fire is already lit, removing the match won’t put it out. And understanding how a match causes a fire doesn’t tell you that water will extinguish a fire.
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