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Updated: Jul 15, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic
1Department of Biochemistry, Christian Albrechts Universität, Kiel, Germany.
Abstract:
Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. We describe a novel missense mutation in exon 6 causing the substitution of Asp335 by Val. In transient transfections no enzyme activity could be expressed from the arylsulfatase A cDNA carrying this mutation. Examination of the effects of the mutation in cells stably overexpressing the mutant enzyme revealed, that the mutant enzyme is catalytically inactive and degraded in an early biosynthetic compartment. We have also investigated the effects of a previously identified mutation (T274M). The specific catalytic activity of the Met274 substituted arylsulfatase is reduced to about 35% of the normal enzyme when measured with an artificial substrate. Most of this enzyme is also degraded in an early biosynthetic compartment.
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Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Lysosomal Hydrolases
Incomplete Dominance
Inborn Errors of Metabolism

