As a member of the sulfatase family, ARSA is required for the lysosomal degradation of cerebroside-3-sulfate, a sphingolipid sulfate ester and a major constituent of the myelin sheet. The ARSA deficiency results in metachromatic leukodystrophy (MLD), a lysosomal storage disease in the central and peripheral nervous systems with severe and progressive neurological symptoms. The deduced amino acid sequence of human ARSA consists of a signal peptide (residues 1-18) and a mature chain (residues 19-507).
>95%, by SDS-PAGE under reducing conditions and visualized by silver stain
Supplied as a 0.2 μm filtered solution in Tris and NaCl.
Measured by its ability to hydrolyze the substrate 4-Nitrocatechol Sulfate (PNCS). The specific activity is >25 pmol/min/µg, as measured under the described conditions.
The ARSA deficiency results in metachromatic leukodystrophy (MLD), a lysosomal storage disease in the central and peripheral nervous systems with severe and progressive neurological symptoms.
Arylsulfatase A is an enzyme that hydrolyzes sulfate compounds and belongs to the esterase superfamily.
Background of Arylsulfatase A
Arylsulfatase A is encoded by the ARSA gene, which is located in the 22q13.3 region of the human chromosome. The ARSA gene encodes a protein containing 522 amino acids and is a member of the esterase superfamily. This protein mainly exists on the inner membrane of lysosomes and is an enzyme that hydrolyzes sulfate compounds, which is crucial for the normal development of neurons and the synthesis of myelin sheaths.
The Function of Arylsulfatase A
Arylsulfatase A is involved in a series of functions during the hydrolysis and metabolism of sulfate esters in the body, particularly crucial for the degradation and storage of sulfate hardened GAGs (such as chondroitin sulfate and heparin sulfate). Sulfate ester compounds are a type of waste in living organisms that need to be decomposed through detoxification metabolic pathways. Arylsulfatase A can decompose sulfate ester compounds into sulfuric acid and corresponding alcohol groups, allowing sulfate ester compounds to be metabolized and eliminated by the liver.
Arylsulfatase A related disease
1. Cumulative metabolic diseases
A genetic defect in Arylsulfatase A can lead to a rare disease - Maroteaux Lamy syndrome. This disease is a metabolic disorder disease, which is characterized by that the patient's body cannot normally degrade and store sulfate to harden GAG, resulting in a large amount of GAG accumulation in bones, liver, gallbladder, spleen, lymph tissue, skin and eyeballs, which can cause a variety of symptoms, such as facial skeletal deformity, megaspleen, varicose veins, cataract, etc.
The lack of Arylsulfatase A can also lead to cumulative metabolic diseases, namely syphilitic leukoplakia Krabbe disease. Syphilis leukoplakia is a rare neurological disorder in children. Due to the lack of Arylsulfatase A, sulfate compounds can accumulate in the nervous system and other organs, leading to neuronal damage and paralysis.
2. Infection and leukemia
In addition to cumulative metabolic diseases, Arylsulfatase A also plays an important role in the development of many diseases. In proliferative diseases such as leukemia and ichthyosis, the expression of Arylsulfatase changes, participating in the regulation and influence of disease progression. In addition, Arylsulfatase A is also associated with infection, and its role in the infection process is being further studied.
The potential application of Arylsulfatase A in medicine
Due to the important role of Arylsulfatase A in the development of diseases, its potential applications in medicine have also received attention. Currently, researchers are actively searching for drugs that can inhibit or promote the expression and activity of Arylsulfatase A. These drugs may be used for the treatment of syphilis leukoplakia and McMurray's disease.
List of Arylsulfatase A related investigational drugs
In current research, some drugs have been proven to improve cumulative metabolic diseases caused by Arylsulfatase A deficiency, such as Liriodendron glucosamine, Zipoxine, and tartary buckwheat acylase.
Beloranib is a non-selective hepatic lipase inhibitor developed by Zafgen, dedicated to treating obesity and some common metabolic disorders. This drug will reduce fat accumulation by inhibiting the expression of various enzymes such as hepatic lipase and Arylsulfatase A in adipose tissue and other tissues. In addition, Beloranib has been shown to inhibit the synthesis of GAG and have the ability to modify GAG specific carbohydrates. Additionally, the planned nuclease and gene therapy are also expected to be used for syphilis leukoplakia and McMurray disease.
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