Blog post: What do genetic disorders and Belgian elections have in common?

By- Yaseen Almeerali 

In 2003, during a national election in Belgium, votes were counted electronically. On the first count, one candidate received more votes than was mathematically possible. The system was immediately run again, and the candidate was shown to have 4,096 fewer votes than initially counted. What went wrong? Believe it or not, the most likely culprit was cosmic rays from outer space.  

Fundamentally, computers function using transistors. These can be thought of as microscopic switches that flip between on and off. This binary flow of information is represented as zeros and ones, where “0” represents “off” and “1” represents “on”. If a string of binary is altered at even a single position (such as a 0 being changed to a 1), it can produce a drastically different output. In the case of the Belgian election, a single flip from a “0” to a “1” resulted in 4,096 extra votes being counted.  

The most likely explanation for this anomaly is high-energy particles from the sun or exploding stars collided with Earth's atmosphere, generating a cascade of secondary particles – one of which struck a transistor in the computer, causing it to flip its state. If this sounds implausible, let the random nature of the error serve as a reminder of the fragility of stored information. Sometimes the difference between order and disorder is nothing more than a cosmic roll of the dice.  

Crucially, our own genetic information is just as vulnerable to spontaneously occurring changes. While binary code is composed of different arrangements of 0 and 1, the genetic code runs in varying sequences of A, T, G and C, where each letter corresponds to a particular nitrogenous base in our DNA: adenine (A), thymine (T), guanine (G), and cytosine (C).  

These genetic instructions encode the millions of different proteins that make our body function at the molecular level. A single nucleotide alteration (such as an “A” being changed to a “T”) can have profound effects on the way a protein behaves. When such alterations occur in reproductive cells prior to conception, a child can be born with a genetic disorder. For instance, a single switch from an “A” to a “T” in a gene regulating brain function could result in genetic epilepsy, leading to the child experiencing severe lifelong seizures.   

Spontaneous genetic alterations of this kind are referred to as occurring “de novo” (from the Latin “of new”). De novo genetic variants are unique in that they do not exist in the genome of either parent, and yet exist in the genome of the affected child. This dispels the common myth that genetic disorders are always inherited from parents.  

On the contrary, while genetic disorders can be inherited, some of the most devastating genetic disorders occur de novo, implicating the proverbial cosmic roll of the dice in many neurodevelopmental disorders. The random nature of genetic alterations is, regrettably, the great equalizer. No matter who you are or what your family history is, there is always a possibility that your child could be born with a unique genetic disorder. 

What can we do to combat the vulnerability we all share to spontaneous genetic changes? We can study them. By engaging in, supporting, or funding research into de novo genetic disorders, we can better equip clinicians with the tools to treat affected patients. Only through scientific progress can we arm ourselves against the misfortune of bad luck. On a personal level, we can also be mindful of how unpredictable genetic disorders can be. Through greater awareness of the unavoidable nature of such conditions, we can help to reduce the stigma that parents of children with genetic disorders too often face.  

Author Bio:

Yaseen Almeerali is a PhD student at the Centre for Discovery Brain Sciences, where he studies NMDA receptors and their role in epilepsy and neurodevelopmental disorders.  

 References: 

1. Johnston, I. (2017). Cosmic particles are changing elections and causing planes to fall through the sky, scientists warn. The Independent.  

2. Travers, A. and Muskhelishvili, G. (2015). DNA structure and function. FEBS J, 282: 2279-2295. 

Image credit: DNA Visual Representation of Double-Helix - Wikimedia Commons