Immunology

Nature study suggests new therapy for Gaucher disease

Scientists propose in Nature blocking a molecule that drives inflammation and organ damage in Gaucher and maybe other lysosomal storage diseases as a possible treatment with fewer risks and lower costs than current therapies.

Medical research

Researchers solve mystery surrounding a form of Batten disease

A team led by researchers at Baylor College of Medicine has uncovered an unexpected mechanism that can explain a form of Batten disease called neuronal ceroid lipofuscinosis 8. The findings published in the journal Nature ...

Diseases, Conditions, Syndromes

Infant tests for debilitating diseases set for mainstream

(Medical Xpress)—Michael Gelb and František Tureček have worked more than a decade to devise and implement newborn screening for some debilitating, often-fatal conditions that show up in the first year to several years ...

Parkinson's & Movement disorders

Linking Gaucher and Parkinson's Diseases

Gaucher (pronounced "go-shay") disease affects one in 450 Jewish people of Ashkenazi (eastern European) descent (one in 10 is a carrier), yet only 1 in 40,000 people in the general population. Of course mutations can happen ...

Diseases, Conditions, Syndromes

First controlled clinical trial for Juvenile Batten disease to start

After years of building hope for a treatment, Rochester researchers and clinicians will begin the first controlled clinical trial for Juvenile Batten disease this summer, thanks to $1 million in grants from the Food and Drug ...

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Lysosomal storage diseases (LSDs;  /ˌlaɪsəˈsoʊməl/) are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when the lysosome – a specific organelle in the body's cells – malfunctions.

Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100,000; however, as a group the incidence is about 1:5,000 - 1:10,000. Most of these disorders are autosomal recessively inherited such as Niemann-Pick disease, type C, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II).

The lysosome is commonly referred to as the cell’s recycling center because it processes unwanted material into substances that the cell can utilize. Lysosomes break down this unwanted matter via enzymes, highly specialized proteins essential for survival. Lysosomal disorders are triggered when a particular enzyme exists in too small an amount or is missing altogether. When this happens, substances accumulate in the cell. In other words, when the lysosome doesn’t function normally, excess products destined for breakdown and recycling are stored in the cell.

Like other genetic diseases, individuals inherit lysosomal storage diseases from their parents. Although each disorder results from different gene mutations that translate into a deficiency in enzyme activity, they all share a common biochemical characteristic – all lysosomal disorders originate from an abnormal accumulation of substances inside the lysosome.

Lysosomal storage diseases affect mostly children and they often die at a young and unpredictable age, many within a few months or years of birth. Many other children die of this disease following years of suffering from various symptoms of their particular disorder.

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