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Lysosomal disease:
1. Type II glycogenosis: The lysosomal enzyme alpha- 1,4 glycosidase is defected. This enzyme when present breakdown glycogen.
2.Hunter's Syndrome: Due to accumulation of glycoamino glycans. These are major polysaccharide in extra cellular matrix. It is basically X linked recessive disease in which iduronate 2 sulphatase enzyme gets defected.
3. Hurler's syndrome: Autosomal recessive disorder. Enzyme alpha L idurodinase is defected. it is also glycoamino glycan accumulating disease.
Tay Sach's disease: Beta N acetyl hexoseaminidase A enzyme is defective. The ganglioside gets accumulated.
I cell disease: NAG phosphotransferase enzyme is non functional.
1. Type II glycogenosis: The lysosomal enzyme alpha- 1,4 glycosidase is defected. This enzyme when present breakdown glycogen.
2.Hunter's Syndrome: Due to accumulation of glycoamino glycans. These are major polysaccharide in extra cellular matrix. It is basically X linked recessive disease in which iduronate 2 sulphatase enzyme gets defected.
3. Hurler's syndrome: Autosomal recessive disorder. Enzyme alpha L idurodinase is defected. it is also glycoamino glycan accumulating disease.
Tay Sach's disease: Beta N acetyl hexoseaminidase A enzyme is defective. The ganglioside gets accumulated.
I cell disease: NAG phosphotransferase enzyme is non functional.
Peroxisomes:
These are very small, ubiquitous, variable and single membrane bodies.
These have crystalline core made up of urate oxidase.
In animals the catalase enzyme is present in periphery along with core.
It metabolises hydrogen peroxidase by help of catalase enzyme.
It also detoxicate various harmful substances such as methanol, ethanol, phenol etc.
In animals fatty acid oxidation takes place in it.
Some fats and lipids are also synthesies in peroxisomes.
Disorders:
Single enzyme defect includes X-ALD(X- linked adrenoleuco dystrophy). In this, one of the transport protein found in membrane of peroxisome is defective.
This protein is involved in transport of long fatty acid chain inside peroxisome.As a result long fatty acid chain accumulates in cytoplasm.
Another type of disease result from defect in mechanism involved in biosynthesis of peroxisome.Zellweger's syndrome is fatal genetic disease. The defect lies in numerous membrane transporters involved in transport of peroxisomal enzymes inside peroxisomes. So, peroxisomes without enzymes are called empty ghosts.PEX genes are found to be responsible of such disease.
These are very small, ubiquitous, variable and single membrane bodies.
These have crystalline core made up of urate oxidase.
In animals the catalase enzyme is present in periphery along with core.
It metabolises hydrogen peroxidase by help of catalase enzyme.
It also detoxicate various harmful substances such as methanol, ethanol, phenol etc.
In animals fatty acid oxidation takes place in it.
Some fats and lipids are also synthesies in peroxisomes.
Disorders:
Single enzyme defect includes X-ALD(X- linked adrenoleuco dystrophy). In this, one of the transport protein found in membrane of peroxisome is defective.
This protein is involved in transport of long fatty acid chain inside peroxisome.As a result long fatty acid chain accumulates in cytoplasm.
Another type of disease result from defect in mechanism involved in biosynthesis of peroxisome.Zellweger's syndrome is fatal genetic disease. The defect lies in numerous membrane transporters involved in transport of peroxisomal enzymes inside peroxisomes. So, peroxisomes without enzymes are called empty ghosts.PEX genes are found to be responsible of such disease.
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