The Connection Between Arylsulfatase E ARSE and Height

In general there is no evidence to suggest that manipulation of arylsulfatase e will lead to height increase but there is clear genetic testing that shows that arylsufatase deficiency leads to short stature.

From the government National Institute of Health website HERE

What is the official name of the ARSE gene?

The official name of this gene is “arylsulfatase E (chondrodysplasia punctata 1).”

ARSE is the gene’s official symbol. The ARSE gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ARSE gene?

The ARSE gene provides instructions for making an enzyme called arylsulfatase E. This enzyme is part of a group known as sulfatases, which are enzymes that help process sulfate-containing molecules. Sulfatases play important roles in cartilage and bone development.

Within cells, arylsulfatase E is located in the Golgi apparatus, a structure that modifies newly produced enzymes and other proteins. The function of this enzyme is unknown, although researchers believe it participates in a chemical pathway involving vitamin K. Evidence suggests that vitamin K normally plays a role in bone growth and maintenance of bone density.

How are changes in the ARSE gene related to health conditions?

X-linked chondrodysplasia punctata 1 – caused by mutations in the ARSE gene
Genetic changes involving the ARSE gene are responsible for X-linked chondrodysplasia punctata 1, a disorder of bone and cartilage development that occurs almost exclusively in males. Between 60 and 75 percent of males with the characteristic features of this condition have a mutation within the ARSE gene. At least 18 mutations have been found in affected individuals; these genetic changes reduce or eliminate the function of arylsulfatase E. Another 25 percent of affected males have a small deletion of genetic material from the region of the X chromosome that contains theARSE gene. These individuals are missing the entire gene, so their cells produce no functional arylsulfatase E.It is unclear how a shortage of arylsulfatase E disrupts the development of bones and cartilage and leads to the characteristic features of X-linked chondrodysplasia punctata 1.Where is the ARSE gene located?

Cytogenetic Location: Xp22.3

Molecular Location on the X chromosome: base pairs 2,852,672 to 2,882,493

The ARSE gene is located on the short (p) arm of the X chromosome at position 22.3.

The ARSE gene is located on the short (p) arm of the X chromosome at position 22.3.

More precisely, the ARSE gene is located from base pair 2,852,672 to base pair 2,882,493 on the X chromosome.

From the Wikigenes website HERENote: I was not able to copy and paste below the information on this website.

From PubMed study “X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.”

Abstract

X-linked chondrodysplasia punctata (CDPX1), due to mutations of the arylsulfatase E (ARSE) gene, is a congenital disorder characterized by abnormalities in cartilage and bone development. We performed mutational analysis of the ARSE gene in a series of 16 male patients, and we found mutations in 12 subjects. Clinical variability was observed among the patients, including severe presentations with early lethality in one of them, and symptoms such as cataract and respiratory distress. This indicates that the clinical spectrum of CDPX1, commonly considered a relatively mild form of chondrodysplasia punctata, is wider than previously reported. Different types of mutations were found among the patients examined. Three missense mutations (I80N, T481M, P578S) were expressed in Cos7 cells to study the effects on arylsulfatase E catalytic activity. These mutations caused impaired enzymatic activity suggesting that they are responsible for the disease. Two nonsense mutations, W581X in four patients and R540X in one, were found. One patient showed an insertion (T616ins). In three patients we found deletions of the ARSE gene: in one the deletion involved only the 3′ end of the gene, while in two the ARSE gene was completely deleted.

Me: Here is the major issue with understanding the connection between Arylsulfutase E and height. The ARSE is a type of protein/enzyme created by the ARSE gene. It seems that the gene is rather easy to get a mutation and the mutation leads to ARSE deffiency. This deficiency seems to lead to chondrodysplasia punctuate, which is a congenital defect of bone and cartilage development. Just remember that almost all types of gene mutations that lead to born and/or cartilage development issues will almost always lead to short stature. The major type of disorder we find is called chondrodysplasia punctata which has some symptoms like cataract and respiratory distress. This protein Arylsulfatase E, ARSE is a commonly mutated gene which will lead to cartilage and bone development problems. 

 

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