The Pathology of Gaucher Disease

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Current Research and Clinical Trails.

Current research is mainly focused on woman who are pregnant and babies that have just been born, this is because the prenatal Gaucher Disease is type 2 which is the deadliest. So current reproach that is going on is discussed by surgeon Alan Flake, and he would like to try to use gene therapy for genetic disorders in the fetus. Flake suggest that the gene therapy at the prenatal stage would be beneficial because there would be a lower risk of rejection because the immune systems are fully developed. Flake also wants to do the gene therapy by viral vectors for fetal growth restriction

clinical trails Recombinant Glucocerebrosidase (Imiglucerase) as a Therapy for Gaucher Disease.(7).

Clinical Research

In February 2010, there was a clinical trail that began, it had to do with enzyme replacement therapy a drug called Velaglucerase alfa, and it was given to woman in small doses who were pregnant. Before taking the drug pregnant woman had showed symptoms of in increase in bone and organ complications, fever, and increase in bleeding. The use of this drug is to help with pregnancy outcomes that woman have had with this type 2 Gaucher disease. The oral use of the drug in this study showed that birth complications were low and that Postpartum complications were low as well. Conclusion VPRIV is safe for conception and pregnancy with good maternal and neonatal outcomes.(2) This is helpful because when the births of children with type 2 are good, then the child has more of a chance at survival and the drug can also reverse some affects of the disease as well.


Gaucher Disease is a disease that can be deadly depending on the type and the person, I think that the research that is being conducted right now focuses on the importance of trying to find a way to better help the prenatal cases and their mothers, I think that the treatments that we have for type 1 and 3 are effective.

The enzyme test measures the amount of

glucocerebrosidase activity in leukocytes in the cell of the patient. The urine or the fibroblasts of the patient are examined.The patient that has inherited the disease will have low levels of enzyme activity. Then you have a DNA analysis that looks for the four common mutations in the gene. The DNA analysis will be able to detect 90% of the mutations that show Gaucher Disease and this is in the Ashkenazi Jewish population, and then it can be detected 50% of the time in the general population.

The second test is a carrier test and that shows which person in your family carries the gene mutations. This can be detected by a blood or saliva test. The process matches the patients chromosomes, DNA, RNA, and genes to determine whether they match with that of a person who has Gaucher disease, and how high of a risk the disease is. These test can also be used to figure out if a child will have the disease or not in its prenatal stage and after birth. There are a couple of treatments for Gaucher disease the first one would be enzyme replacement and that is only for type 1 Gaucher disease, this has a replacement for the glucocerebrosidase. The second treatment would be Glucosylceramide synthase inhibitors. which would stop the build up of glucocerebrosidase, from happening. The last treatment has to deal with prenatal which is the most life threatening and that would be gene therapy, in a article Flake states that this would be very beneficial if the gene therapy was accepted by the child.

(5)The Gaucher Disease is an autosomal recessive disease that is caused by an accumulation of glucocerebrosidase, due to a genetic deficiency. Gaucher's disease is caused by a lysosomal storage disease and its the most common disease dealing with this deficiency. The disease is inherited when there is not enough activity of the an enzyme. The enzyme is lysosomal and when it doesn’t have enough activity going on it leads to a build up of an beta acid called glucosidase, with this build up there is a surge glucocerebroside in cells that start to cause problems for the patients.The deficiency is in the lysosomal β, because of this build up there is damage that is caused to different organs and it varies on the type of Gaucher Disease the patient has as well. There is a gene that is called GBA and that is the only gene that has mutations happen to it that cause Gaucher Disease. There have been more than 300 mutations found in GBA that have been linked to Gaucher Disease. The mutations of the GBA disease vary from frame-shift mutations, splice site mutations, and deletions. There is a variety of phenotypes that are correlated with Gaucher Disease. There is little known about the 300 mutations that go along with Gaucher Disease. However the four common mutations of the gene are, N370S, L444P, 84gg and IVS2[+1](6). Gaucher Disease can happen in any ethic background however it is very common among the Ashkenazi Jews. Gaucher Disease type 1 shows that there is a variability in the phenotype as well as absence of neuronopathic involvement.

Screening and Treatment

There are two test that can be used to determine if a patient has Gaucher Disease. The first test would be testing the patient to see if they have the disease by testing the enzymes that are related to having this disease.


Gaucher Disease is an inherited disease that attacks many of the body’s organs and tissues. The Gaucher Disease has an autosomal recessive pattern, and that is how it can be inherited 1. This is where there are mutations of cells in both copies of the gene, one from the mother and one from the father 1. The recipient of the Gaucher Disease parents carry the gene but sometimes do not show symptoms of having Gaucher Disease. Research shows that there are around several types of Gaucher Disease, based on the signs and symptoms that the patient shows 1. Type 1 Gaucher Disease is the most common in the United States Population, with 95% having type 1 2. The symptoms for type 1 Gaucher Disease would be no changes to the brain and the spinal cord, another name for type 1 would be called non-neuronopathic. The signs and symptoms can be apparent anywhere from childhood to adulthood and are mild to severe 2 . The symptoms of having type 1 Gaucher Disease would be the swelling of the liver and spleen, there will be a low count of red blood cells, and because of the low count of re blood cells there will be a decrease in the blood platelets, which will cause more bruising. There will also be chances of lung disease and there are problems that happens with the bones as well such as arthritis(3).The other two common types of Gaucher Disease in America will be type 2 and 3 and these diseases are neuronopathic

Type 2 and 3 Gaucher Disease has the same symptoms that type 1 has but there are additional symptoms and signs as well. The additional symptoms will be abnormal eye color and movement, seizures which cause brain damage and also other symptoms that affect the brain (3). Type 2 will usually develop in infancy stage and can be life-threatening, type 3 takes longer to worsen then type 2. The most severe and life threatening would be the perinatal lethal form, this form is started before birth or infancy. The symptoms are severe swelling of body parts and its because of fluid accumulation before birth, dry, scaly skin, abnormal facial features and neurological problems. Most infants only survive a couple of days.(3)

Gaucher Disease will occur in about 1 in 50,000 to 100,000 in people in the general population in America (4). The prognosis on Gaucher Disease would be enzyme therapy. This therapy will replace the enzymes that are building up that has caused the Gaucher Disease. The therapy will be most helpful in type 1 ( the most common Gaucher disease) and type 3 ( one of the slower Gaucher disease) (4). One of the fist diagnostic test were created in 1967 by Dr. Roscoe Brady and his group. The test worked by measuring the activity of the glucocerebroside, which would be white blood cells. The amount of that enzyme will show how severe the case of Gaucher is for that patient. The level of the enzyme will also show what type of Gaucher disease the patient has. The diagnosis of Gaucher Disease would be a patient that shows problems with bone, and enlarged spleen and liver, red blood cell level changes, problems with the nervous system, and easy bleeding and bruising. Paients that have Gaucher Disease will have low levels of enzyme activity and the test created by Dr. Brady will determine those levels. That would be the first test that patients can take and the second test would be a DNA analysis of the GBA gene that will be able to show if there are mutations.The enzyme and DNA testing can be done prenatally and that is great to find if your child has type 2 Gaucher Disease. If there is a family member that is known to have Gaucher Disease, can have other family members get