Gaucher Disease News and Articles
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What is Gaucher disease, type 2?
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. In people with this condition, the body is unable to break down a certain type of fat (lipid) called glucocerebroside. Type 2 Gaucher disease is characterized by onset in infancy and severe involvement of the central nervous system (the brain and spinal cord).
Gaucher disease, type 2 is a subtype of Gaucher disease.
As in other types of Gaucher disease, signs and symptoms of type 2 include enlargement of the liver and spleen (hepatosplenomegaly). Type 2 is known as the acute neuronopathic form of the disease because the central nervous system is also affected, causing progressive brain damage, seizures, paralysis of the eye muscles, abnormal muscle tone, and choking spells. These signs and symptoms first appear in infancy. People with type 2 Gaucher disease usually live only into early childhood.
How common is Gaucher disease, type 2?
This rare condition is seen in fewer than 1 in 500,000 births. Unlike type 1, type 2 Gaucher disease is not more frequent in the Ashkenazi (central and eastern European) Jewish population.
What genes are related to Gaucher disease, type 2?
Mutations in the GBA gene cause Gaucher disease, type 2.
Mutations in the GBA gene lead to extremely low levels of an enzyme called beta-glucocerebrosidase. This enzyme usually breaks down a lipid called glucocerebroside into a sugar (glucose) and a simpler fat molecule. Without functional beta-glucocerebrosidase, glucocerebroside can build up in the body's cells. The abnormal accumulation of this substance damages tissues and organs, causing the characteristic features of Gaucher disease.
How do people inherit Gaucher disease, type 2?
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.
Source: National Institutes of Health
Recent Gaucher Disease News and Articles
Reports from Institute for Cancer Research and Treatment (IRCCS) Add New Data to Research in Gaucher Disease
2012 DEC 24 (NewsRx) -- By a News Reporter-Staff News Editor at Hematology Week
-- Investigators publish new report on Inborn Genetic Diseases and Conditions. According to news reporting originating from Milan, Italy, by NewsRx correspondents, research stated, "Gaucher disease type I is a metabolic disorder
caused by a genetic
deficiency of lysosomal beta-glucocerebrosidase that leads to accumulation of glucocerebroside in macrophages, thus causing damage in different organ systems. Enzyme replacement therapy
with imiglucerase improves organ impairment and clinical manifestations, but patients differ in response to treatment."
Our news editors obtained a quote from the research from Institute for Cancer Research and Treatment (IRCCS), "While clinical remission is the most desirable therapeutic outcome, a more realistic goal in patients with high disease burden is reasonably good clinical status despite persistence of residual biochemical or imaging abnormalities. Therefore, the concept of minimal disease activity - used in certain haematological or rheumatologic conditions - needs to be introduced in Gaucher disease, with a level of disease activity that patients and physicians consider a useful treatment target. In this paper, we propose specific parameters and criteria for defining minimal disease activity in Gaucher disease and its stability over time, based on three major systemic domains typically involved: haematological, visceral, and skeletal. Biomarker parameters were not included as criteria, because currently they do not adequately reflect disease evolution in individual patients. Neurological and respiratory domains were also excluded, as their involvement per se indicates severe disease unlikely to respond to enzyme replacement therapy and achieve minimal disease status."
According to the news editors, the research concluded: "Our goal in defining minimal disease activity and stability is to identify a tool to facilitate treatment decisions in clinical practice."
For more information on this research see: Minimal disease activity in Gaucher disease: Criteria for definition. Molecular Genetics and Metabolism, 2012;107(3):521-525. Molecular Genetics and Metabolism can be contacted at: Academic Press Inc Elsevier Science, 525 B St, Ste 1900, San Diego, CA 92101-4495, USA. (Elsevier - www.elsevier.com; Molecular Genetics and Metabolism - www.elsevier.com/wps/product/cws_home/622920)
The news editors report that additional information may be obtained by contacting M. Di Rocco, IRCCS Fdn Ca Granda Maggiore Polyclin Hosp, Dept. of Internal Med, Milan, Italy.
Keywords for this news article include: Milan, Italy, Europe, Hematology, Brain Diseases, Sphingolipidoses, Gaucher's Disease, Lipid Metabolism Disorders, Lysosomal Storage Diseases, Nutritional and Metabolic Diseases, Inborn Genetic Diseases and Conditions
Our reports deliver fact-based news of research and discoveries from around the world. Copyright 2012, NewsRx LLC