ADH5
The ADH5 gene (Alcohol Dehydrogenase 5) encodes for an enzyme also known as formaldehyde dehydrogenase. This enzyme plays a crucial role in detoxifying formaldehyde, a toxic compound produced during various metabolic processes in the body.
Associated Diseases:
While research on the direct association between the ADH5 gene and specific diseases is still ongoing, studies have suggested its potential involvement in the following:
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AMED Syndrome:
- A novel autosomal recessive multisystem disorder: ADH5 mutations, along with mutations in the ALDH2 gene, have been identified as the cause of AMED syndrome (Alcohol dehydrogenase 5 and Aldehyde Dehydrogenase 2 deficiency). This syndrome is characterized by global developmental delay, intellectual disability, short stature, and early-onset bone marrow failure.
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Cancer:
- Lung Cancer: Some studies suggest a correlation between decreased ADH5 activity and increased risk of lung cancer.
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Neurological Disorders:
- Schizophrenia and Autism: Recent research found an association between ADH5 gene variations and an increased risk for both schizophrenia in African-Americans and autism in European-Americans.
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Other Conditions:
- Fanconi Anemia-Like Syndrome: Combined deficiency of ADH5 and ALDH2 has been linked to a rare inherited bone marrow failure syndrome that resembles Fanconi anemia.
- Cardiovascular Disorders: ADH5 polymorphisms have been associated with an increased risk of cardiovascular diseases due to its role in modulating cellular nitric oxide signaling.
Further Research:
The exact mechanisms by which ADH5 contributes to these diseases are still under investigation. Further research is needed to understand the precise role of the ADH5 gene in disease development, progression, and potential therapeutic applications.
