Rare inherited enzyme disorder yields insight into fibrosis

ScienceDaily | 7/17/2019 | Staff
itsdonaldk (Posted by) Level 3
The investigators have discovered an association between a deficiency in the enzyme neuraminidase 1 (NEU1) and the build-up of connective tissue (fibrosis) in organs such as the muscle, kidney, liver, heart and lungs. Fibrosis includes life-threatening conditions such as idiopathic pulmonary fibrosis.

Mutations in the NEU1 gene cause the lysosomal storage disease sialidosis, which belongs to a large group of related pediatric diseases. "This is the first time NEU1 has been associated with fibrotic conditions," said corresponding author Alessandra d'Azzo, Ph.D., a member and endowed chair of the St. Jude Department of Genetics. "NEU1 is an important enzyme that breaks down sugar-containing molecules in many cells of the body, but it has not really been on the radar for adult health problems.

Findings - NEU1 - Expression - Levels - Individuals

"Based on these findings, it is tantalizing to hypothesize that NEU1 expression levels may help identify individuals at risk for fibrosis or inform their prognosis, particularly when information about the cause or possible treatment is lacking," she said. Fibrosis results when excess connective tissue is produced and accumulates and disrupts normal function of the muscle, lungs, liver, heart and other tissues. Connective tissue is produced in part by fibroblast cells.

The findings build on earlier research from d'Azzo's laboratory. That work centered on mice that lacked the Neu1 gene. The mice developed muscle atrophy when connective tissue proliferated and invaded muscle.

Study - Researchers - Mechanism - Mouse - Fibroblasts

In this study, researchers unraveled the underlying mechanism by showing that mouse fibroblasts lacking Neu1 proliferated,...
(Excerpt) Read more at: ScienceDaily
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