Ubiquitin Structure & Function: Difference between revisions
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=Diseases= | =Diseases= | ||
There are numerous diseases that may develop as a result of ubiquitin abnormalities. There are two disease categories possible in non-lethal states. One being the result of function loss and the other being function gain. Loss of function may occur due to a target substrate mutation or a mutation in a ubiquitin enzyme causing protein stabilization and a decrease in protein degradation. Function gain, on the other hand, results in an increase in protein degradation. | There are numerous diseases that may develop as a result of ubiquitin abnormalities. There are two disease categories possible in non-lethal states. One being the result of function loss and the other being function gain. Loss of function may occur due to a target substrate mutation or a mutation in a ubiquitin enzyme causing protein stabilization and a decrease in protein degradation. Function gain, on the other hand, results in an increase in protein degradation. | ||
Cancer may result from either cases. Oncoproteins may become stabilized while tumor suppressor genes may become destabilized. Liddle's Syndrome is a type of early-onset hypertension<ref name="liddles">PMID: 8521520</ref>. Sodium ions and water are excessively reabsorbed caused by E3 ligase non-recognition. | Cancer may result from either cases. Oncoproteins may become stabilized while tumor suppressor genes may become destabilized. Liddle's Syndrome is a type of early-onset hypertension<ref name="liddles">PMID: 8521520</ref>. Sodium ions and water are excessively reabsorbed caused by E3 ligase non-recognition. Angleman syndrome is caused by a E3 ligase defect. This defect causes affects in human brain development resulting in symptoms such as mental retardation, seizures and abnormal gait. Lastly, neurogenetive diseases are caused by the accumulation of ubiquitin-conjugates. Diseases of this nature include Alzheimers and Parkinson's. | ||
=References= | =References= | ||
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