Gene Mutation Can Cause Permanent Brain Damage After Concussion Parents should determine whether their child has this mutation before starting contact sports

by | C3 mutation, Concussion/TBI

My primary motivation for creating this blog is to educate people so they will find out whether they or their children have this mutation, which can be easily determined with AncestryDNA or the new 23andMe kit. But first, I’ll tell you about the gene, how I discovered I had this mutation, and its impact on my life.

Mutation in Complement Component 3 (C3) Is Discovered

The mutated gene is an immune gene called Complement Component 3 (C3 for short), and my particular autosomal dominant mutation (rs147859257, K155Q) occurs in about 1/180 people (~1.7 million people in the U.S. or ~40 million in the world) but is most prevalent in those with northern European ancestry and almost nonexistent in Asians.1,2,3 I learned I had this mutation when my genome was sequenced by Illumina as an adjunct to a Future of Genomic Medicine conference. Of the 20,000+ protein-coding genes in the genome, Illumina analyzed large chunks of 1690 genes causally related to disease, including C3 since it is definitively linked to Age-related Macular Degeneration (AMD) and other disorders.1,2

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Which Diseases Might Be Associated With My C3 Mutation?

by | C3 mutation, Cancer, Concussion/TBI, Dementia, Inflammation

Since learning I had this mutation (rs147859257) in Complement Component 3 (C3), many people in my family have tested their DNA to determine whether they share it as well. From analyzing which diseases and conditions people with the mutation have or had and excluding diseases also present in those who do not have the mutation, we’ve been able to postulate some disease associations. These associations are purely hypothetical at this point and mostly include diseases that could occur due to excessive inflammation. If you or others in your family have the C3 mutation, I would be interested in knowing if any of these diseases or others commonly occur in those with the mutation in your family. I am also considering organizing a study (though I still need to figure out the logistics). Please contact me if you’re interested in a study or just want to add to the information below.

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