Genetics on a Personal Note
by Beth Biggee, MD
“It is through the study of genetics that we come to appreciate the profound interconnectedness of all living things”
Genetics on a personal note. May is the month of my father’s passing. Dad passed away from complications due to long standing type I diabetes, an autoimmune attack on the pancreas. With this blog I honor him and all my ancestors. Many suffered from autoimmune disease. May is also arthritis awareness month, so I honor my paternal grandmother who battled rheumatoid arthritis in the days when gold shots and steroids were the only option. Dad’s older sister suffered from sarcoidosis, a granulomatous inflammatory condition of skin, joints, and lung tissue, while his baby sister suffered vitiligo, an autoimmune loss of pigment in the skin.
You may be wondering, do they have some common gene in this family that accounted for all this autoimmune disease? Did they have the same toxic exposure in the home, the same infection, similar stress? Well, genetics and perhaps epigenetics did not skip a generation as I suffer from celiac and several of my cousins have rheumatoid arthritis. I consider myself fortunate as my condition is cured by simply not eating gluten. Type I diabetes however runs its course, and one is left with insulin injections for life. Vitiligo also runs its course, where pigment abandons your skin leaving you with a lifetime of extra skin protection. Sarcoidosis and rheumatoid arthritis, on the other hand, usually require lifelong immune therapies so that the joints and other organs are not damaged permanently.
This autoimmune family tree strikes concern for my children. Are they guaranteed an autoimmune disease? The HLA genes (which code for proteins that sit on the membranes of cells) such as DQ2 and DQ8 are present in 95% of patients with type I diabetes and almost 90% of those with celiac (compared to 40% unaffected individuals). The HLADRB1 gene is present in many with rheumatoid arthritis, sarcoidosis, and type I diabetes but over 100 genes have been implicated in these disorders. Despite these statistics my children are not necessarily destined for an autoimmune disease. Even though there is a higher risk of developing these diseases in genetically predisposed individuals, the majority who carry these genes never develop the disease. Therefore, the environment and external factors trigger onset.
A fascinating article in Science May 2023 reviews genetics but also infection triggered events that might drive autoimmune disease. It’s true that different autoimmune diseases co-occur in the same patient and that clusters of autoimmune diseases are seen in families, but autoimmune diseases are in fact an interplay between environment and genetics. Something happens in the environment to activate genes that make the immune system less tolerant of itself. The immune system loses its tolerance for self, hence attacks tissue instead of intruders like bacteria and viruses. Risk factors for autoimmunity include poor diet, smoking, gut and oral microbiome dysbiosis, infections such as EBV, CMV, parvovirus, Lyme, Bartonella, and a whole host of GI infections. What happened in my dad’s family was genetics but also the interplay of the environment. In that day in age, most individuals smoked and perhaps shared a diet that was not kind to the microbiome. My Dad also suffered from an infection and enormous stress while training to go to Vietnam right before he developed the diabetes type I.
So, what can I do for my kids today to mitigate risk? I start with the pillars of health. For nutrition, we adopt a healthy anti-inflammatory Mediterranean diet which supports the gut and oral microbiome. I advise against smoking and other toxic substances. I try to protect my family from infections by optimizing exposure risk, promoting adequate sleep, stress management, and interconnectedness.
My ancestors suffered from autoimmune diseases, but they are my angels and catalysts for promoting change for future generations. I am doing my best not only for my children, but for patients and clients alike. Promoting a healthy environment through lifestyle, Ayurvedic, and integrative medicine practices is my way to keep genetics at bay.
I did not use AI for this blog so it may be a relatively tough read for this day in age. This blog is 100% Beth Biggee.
Be Well,
Beth Biggee, MD ABIM, ABOIM, ABLM