71,095 - That is how many base pairs make up the NGLY1 gene.
That is only 0.0000236% of the 3 billion base pairs that make up the human
genome so no big deal right? Wrong. This gene is located on the third
chromosome and codes for the production of the enzyme N-glycanase. When there
is a mutation or deficiency in the NGLY1 gene, the enzyme cannot be produced
which leads to an accumulation of glycoproteins in the cells. This is a rare genetic disorder that has just recently been discovered. It's symptoms include
developmental delays, a smaller head, signs of liver damage, seizures,
hypotonia (movement disorder that causes the individual to be limb like a rag
doll), eyes that wander in different directions and, (referring back to the
title) a lack of tear production.
The first popular case of this disease was discovered in two-year-old
Grace Wilsey by Matthew Bainbridge. Grace’s parents realized there was
something wrong with Grace when she was a newborn. They saw over 100 doctors
before discovering the genetic mutation on the NGLY1 gene. Grace’s story is
still ongoing. Her family and doctors’ search for other NGLY1 patients (14
found so far) and are raising funds to look into treatment options.
Grace Wilsey and her parents |
I decided to do this article because it fascinates me that
such a small piece of DNA can have such an impact on multiple systems in a
person’s body. While so much money is being directed towards research of more
common diseases, these rare disorders that only affect a small percentage of
people are often put on the back burner and never cured.
Grace Wilsey Foundation - Rare is not an excuse
This is a very interesting article. I have never heard of Grace Wilsey or this disease and like you said, I never thought something so small could have such a large effect on a person. Now that doctors and scientists know this disorder exists, and have at least 14 cases of it, it will be easier for them to combat against it and hopefully find a cure.
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