Gaucher Disease Junmo JEON

Gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease. Mutation then produces glucosylceramidase isoform 1 precursor protein.

Gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease. Glucosylceramidase isoform 1 precursor protein is then produced by mutation.

Gaucher Disease is recessive as shown on the image

In 1882, Philippe Gaucher discovered the disease and lent his name for the disease. In 1934, the French chemist A. Aghion found the cause of enlarged spleens and liver: a buildup of a lipid (fatty substance) called "glucocerebroside."

For diagnosing Gaucher Disease, we can access the activity of the glucocerebrosidase enzyme using blood or skin cells. Then, genotyping can be used to confirm the diagnosis by checking for the presence of specific mutations associated with the disease. Also, diagnosing early will make patients improve their lives.

Gaucher disease cannot be treated, but therapy can treat some symptoms with type 1. Two of them are enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).

Currently, gene therapy is being conducted on the disease. Researchers are pursuing gene therapy as an area that may lead to a cure for Gaucher disease. It is also believed that gene therapy will involve introducing normal glucocerebrosidase genes into cells of an affected individual.

Works Cited

Berman, Brian. "Gaucher Disease Type 1." National Gaucher Foundation, 1 Sept. 2016, www.gaucherdisease.org/. Accessed 1 Feb. 2017.

Garbutt, April Cashin. Incidence & Inheritance of Gaucher Disease. Digital file, 2017.

"Gaucher Disease." Youtube, uploaded by Olivia Lamb, 15 Nov. 2013, www.youtube.com/watch?v=camQrynzNIM. Accessed 5 Feb. 2017.

Nordqvist, Christian. "What is Gaucher's Disease? What Causes Gaucher's Disease?" Medical News Today (MNT), MediLexicon International, 17 Sept. 2014, www.medicalnewstoday.com/articles/263370.php. Accessed 1 Feb. 2017.

Olivier, Clement. Interview. By April Cashin Garbutt. 30 Sept. 2014.

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