True story!

During my recent relapse, my rheumy was testing my Creatine Kinase. I hadn't had it tested since before being diagnosed. My CK levels were low, but I thought it was from losing so much weight. After reviewing my records, I discovered my CK has always been low, even before being diagnosed. Low CK infers autoimmunity.

I decided to find all my genes related to CK. Nothing seemed out of the ordinary, until I stumbled upon my Creatine Kinase Mitochondria 1A gene. All the polymorphisms of that gene were uncommon, being anywhere from 6-9% of the population. Since research was lacking for that gene, I turned to the Protein Atlas for that gene and had my Ah Hah! moment.

This year, I went from having annoying distress in my digestive system, to a severe relapse of CNS vasculitis, to WG attacking my salivary glands. So what's this got to do with my CKMT1A gene? The Protein Atlas revealed that my CKMT1a gene was highly tissue specific for my brain, digestive system and salivary glands, as well as my kidneys and tonsils. My tonsils were removed when I was four years old, after having an emergency tonsillectomy and I've always had kidney involvement.

New research is finding a connection between mitochondrial DNA and WG. There are many mitochondrial genes and they may ultimately be connected to various organ involvements. Research on mitochondria and autoimmunity is recently exploding. They might even use mitochondrial DNA as a biomarker for activity in our disease.

Circulating mitochondrial DNA in serum of patients with granulomatosis with polyangiitis