NTHL1
NTHL1: An Intriguing Gene Linked to Cancer and Neurological Disorders
Description
NTHL1 is a human gene that encodes the N-terminal like DNA glycosylase 1 protein. This protein plays a crucial role in DNA repair, specifically in the base excision repair (BER) pathway, which removes damaged bases from DNA. NTHL1 recognizes and removes oxidized pyrimidine bases, such as thymine glycol and 5-hydroxymethylcytosine.
Associated Diseases
Mutations in the NTHL1 gene have been associated with several diseases, including:
- Colorectal cancer: Germline mutations in NTHL1 can increase the risk of developing colorectal cancer by 4-fold.
- Li-Fraumeni syndrome: A rare genetic disorder that predisposes individuals to various types of cancer, including breast cancer, leukemia, and bone cancer. NTHL1 mutations are found in approximately 10% of Li-Fraumeni syndrome cases.
- Neural tube defects: Mutations in NTHL1 have been linked to an increased risk of neural tube defects, such as spina bifida and anencephaly.
- Infantile-onset encephalopathy: A severe neurological disorder characterized by seizures, developmental delay, and microcephaly. NTHL1 mutations are found in approximately 20% of infantile-onset encephalopathy cases.
Did you Know ?
Approximately 1 in 50 people carry a heterozygous mutation in the NTHL1 gene, which means they have one normal copy and one mutated copy. While carrying a heterozygous NTHL1 mutation does not usually lead to disease, it may increase the risk of developing cancer or other health problems in certain individuals.
