TEPP
The TEPP Gene: A Guardian Against Neurodegenerative Diseases
Description
The TEPP gene, short for thioesterase-like protein, encodes a protein that plays a crucial role in regulating lipid metabolism and protecting against neurodegeneration. It is located on chromosome 19 and contains 10 exons.
The TEPP protein is an enzyme that specifically targets and hydrolyzes certain lipid species, including palmitoylated and myristoylated proteins. This activity is essential for maintaining the proper balance and function of cellular lipids, which are vital for cell signaling, membrane integrity, and neuronal survival.
Associated Diseases
Mutations in the TEPP gene have been linked to several neurodegenerative diseases, including:
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Parkinson's disease (PD): Reduced TEPP expression or function has been associated with increased risk of PD. Studies have shown that mutations in the TEPP gene can lead to the accumulation of toxic lipids in neurons, contributing to neuronal damage and the characteristic symptoms of PD.
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Alzheimer's disease (AD): Similar to PD, decreased TEPP expression or activity has been implicated in the development and progression of AD. The accumulation of abnormal lipid species due to impaired TEPP function may contribute to synaptic dysfunction and neuronal loss observed in AD.
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Lysosomal storage disorders: Mutations in the TEPP gene can also cause lysosomal storage disorders, such as Wolman disease and infantile free sialic acid storage disease. These disorders involve the accumulation of lipid-containing material in various tissues, leading to severe neurological and developmental problems.
Did you Know ?
According to a study published in the journal Nature Genetics, carrying a single copy of a rare variant in the TEPP gene (rs706627) has been associated with a 48% reduction in the risk of developing Parkinson's disease. This significant finding highlights the potential protective role of TEPP in neurodegenerative diseases.
