کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2177977 1549623 2015 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Cytokines in Gaucher disease: Role in the pathogenesis of bone and pulmonary disease
ترجمه فارسی عنوان
سیتوکین ها در بیماری گوچه: نقش در پاتوژنز بیماری های استخوانی و ریوی
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیولوژی سلول
چکیده انگلیسی

Gaucher disease (GD) is the most frequently encountered lysosomal storage disease caused by inborn defects of the membrane-bound lysosomal enzyme, acid β-glucosidase or glucocerebrosidase. This defective activity causes an accumulation of glucocerebroside (glucosylceramide) in the lysosomes of cells derived from the monocyte/macrophage lineage. Glucocerebroside-engorged cells, termed Gaucher cells, infiltrate various organs, leading to multisystemic abnormalities. The mechanisms by which systemic and organ-specific involvement is propagated or initiated remain unclear. Studies are increasingly recognizing the role of immune dysregulation and inflammation in the pathogenesis of Gaucher disease. Many cytokines have been reported as mediators of tissue damage in Gaucher disease. Bone and lung disease are serious causes of morbidity in non neuronopathic Gaucher disease. The progress in the understanding of the pathogenesis or relevant mechanism(s) of Gaucher disease is providing insights into additional therapeutic targets, enabling the potential for optimized patient outcomes with the use of adjunctive or supplemental agents.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Egyptian Journal of Medical Human Genetics - Volume 16, Issue 3, July 2015, Pages 207–213
نویسندگان
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