Zellweger Syndrome: Difference between revisions
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Zellweger Syndrome is an inherited disease where the lack of proteins in peroxisomes leads to peroxisomal deficiency. This can be caused by a mutation in gene encoding peroxon Pex2 (related to protein import) which will lead to severe abnormalities in major organs (brain, liver & kidneys) and can result in death | Zellweger Syndrome is an inherited disease where the lack of [[Proteins|proteins]] in [[Peroxisomes|peroxisomes]] leads to peroxisomal deficiency. This can be caused by a mutation in [[Gene|gene]] encoding peroxon Pex2 (related to protein import) which will lead to severe abnormalities in major organs ([[brain|brain]], [[Liver|liver]] & [[Kidney|kidneys]]) and can result in death <ref>Alberts et al.,2008, Molecular biology of the cell, Fifth ed., Page 723, New York, Garland science</ref>. It is the most severe of the 4 peroxisome biogenesis disorders (PBD) and there is no cure for it. Also. there are only limited treatments available as the metabolic and neurological pathways involved, are affected during fetal development <ref>http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm</ref>. | ||
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Latest revision as of 07:41, 15 November 2011
Zellweger Syndrome is an inherited disease where the lack of proteins in peroxisomes leads to peroxisomal deficiency. This can be caused by a mutation in gene encoding peroxon Pex2 (related to protein import) which will lead to severe abnormalities in major organs (brain, liver & kidneys) and can result in death [1]. It is the most severe of the 4 peroxisome biogenesis disorders (PBD) and there is no cure for it. Also. there are only limited treatments available as the metabolic and neurological pathways involved, are affected during fetal development [2].
References
- ↑ Alberts et al.,2008, Molecular biology of the cell, Fifth ed., Page 723, New York, Garland science
- ↑ http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm