TET1
Tet1 Gene: Unraveling the Complexities of Gene Expression
Description
The tet1 gene encodes the ten-eleven translocation 1 (TET1) enzyme, a crucial player in the epigenetic regulation of gene expression. This intricate process controls the accessibility of DNA to the cellular machinery, ultimately influencing the transcription of genes. TET1, specifically, is responsible for the oxidation of 5-methylcytosine (5mC), the main epigenetic mark associated with gene silencing, into 5-hydroxymethylcytosine (5hmC). This conversion initiates a cascade of modifications that can lead to gene activation or repression.
Associated Diseases
Dysregulation of TET1 activity has been implicated in a range of human diseases, including:
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Acute myeloid leukemia: Loss-of-function mutations in TET1 are commonly found in this aggressive blood cancer, highlighting the enzyme's critical role in hematopoietic cell differentiation.
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Neurodegenerative disorders: Reduced TET1 expression has been observed in the brains of individuals with Alzheimer's disease and Parkinson's disease, suggesting a connection between epigenetic dysregulation and neurodegeneration.
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Metabolic syndrome: Studies have shown that TET1 deficiency in adipose tissue impairs insulin sensitivity and promotes metabolic disorders such as obesity and diabetes.
Did you Know ?
Approximately 20% of patients with acute myeloid leukemia carry mutations in the tet1 gene, making it one of the most commonly mutated genes in this type of cancer.