Gaucher's Disease Research Paper

“Signs and symptoms of Gaucher’s disease can vary wildly. Siblings, even identical twins, with the same disease may have different levels of severity” (Mayo Clinic). While many people who get the disease can live long lives, most infants who get the disease die by age 1 (Vance). Gaucher’s disease is a rare genetic disorder that results in the buildup of cerebrosides, a type of fatty molecule, eventually causing damage to the spleen, liver, central nervous system, and bones. There are four types of Gaucher’s disease. Type I can occur at any age, but typically averages about age 21. Type I is non-neuropathic, meaning thee nervous system remains unaffected. It does, however, cause “excessive growth of the liver and spleen …, weakening of bones”,
Gaucher’s disease is caused by a lack of the glucocerebrosidase (or GC) enzyme (Vance). Glucocerebrosidase works to facilitate the breakdown of the monosaccharide glucocerebroside. Without the GC enzyme to break it down, glucocerebroside begins to build up. Macrophages are large cells whose purpose is to consume and break down a foreign substance. Because glucocerebroside is acquired by breaking down foreign substances, Gaucher’s disease affects macrophages such as those in the spleen, liver, and bones, causing a buildup of glucocerebroside in their lysosomes
However, there are several methods to prevent the spread of the disease. Gaucher’s disease is caused by damage to the glucocerebrosidase gene on chromosome 1. The disease is autosomal recessive, meaning the trait must be inherited from both parents (Mayo Clinic). Therefore, two carriers have a 50% chance of their child being a carrier, and a 25% chance of having a child with the disease. Luckily, there is a way to prevent the disease from being spread. Couples can have DNA testing done to see if they are carriers of the disease. If they are carriers, but still want to have children, pre-implantation genetic diagnosis is available. In pre-implantation genetic diagnosis, a fetus is tested for the disease before being implanted into the uterus, thus insuring a healthy child. Should the disease be discovered after birth, however, ther are several options for