What is MUTYH mutation?
What is MUTYH mutation?
MUTYH is a gene that normally helps repair damaged DNA. It’s sometimes also referred to as MYH. If you inherit mutations, or changes, in this gene, it won’t function like it should. Everyone has two copies of the MUTYH gene, one that they acquire from each of their parents.
Is MUTYH hereditary?
MUTYH (MYH)-associated polyposis (MAP) is a hereditary condition. People with MAP tend to develop multiple adenomatous colon polyps during their lifetime and will have an increased risk of colorectal cancer if they are not monitored closely with colonoscopies.
What chromosome is the MUTYH gene on?
MUTYH is located on the short arm of chromosome 1(1p34. 1) and spans 11.2 kb. This gene is a DNA glycosylase that is involved in the repair of post-replicative mispairs and plays a critical role in base excision repair (BER) pathway (4, 5).
What is Monoallelic mutation of MUTYH gene?
MUTYH Monoallelic gene Overview Individuals with mutations in both of their copies of the MUTYH gene (biallelic mutations) have a condition known as MUTYH-associated polyposis (MAP), which is associated with a high risk for cancer.
What is MUTYH heterozygous?
Background & aims: MUTYH-associated polyposis (MAP) is an autosomal recessive disorder caused by mutations in the MUTYH gene. Patients with MAP are at extremely high risk of colorectal cancer, but the risks of colorectal and other cancers in heterozygous carriers of a single MUTYH mutation are uncertain.
What is MUTYH associated polyposis?
MUTYH-associated polyposis is an autosomal recessive polyposis syndrome caused by biallelic pathogenic germline variants in the MUTYH gene [1]. MUTYH is a base excision repair gene whose protein repairs oxidative damage to the DNA. Oxidation of guanine leads to the formation of 8-oxo-6, 7, 8-dihydroxy-2 deoxyguanosine.
What diseases are caused by gene mutations?
Most genetic diseases are the direct result of a mutation in one gene. However, one of the most difficult problems ahead is to further elucidate how genes contribute to diseases that have a complex pattern of inheritance, such as in the cases of diabetes, asthma, cancer, and mental illness.
What are the four types of genetic mutations?
The four main types of chromosomal mutations are deletion, duplication, inversion and translocation. A fifth chromosomal mutation is known as a deficiency. This occurs when a chromosome is lost sometime during fertilization or development of a fetus.
What conditions can MTHFR gene mutation cause?
Rapid heartbeat
