What pathway is ataxia telangiectasia mutated

[DigitalExplorer]

Hi everyone,

I'm new to the forum and I'm hoping to get some help with a topic I'm researching. I'm looking into ataxia telangiectasia and I'm curious to know what pathway it is mutated in. I understand that this is a rare genetic disorder, but I'm hoping that someone here might be able to provide some insight into this.

I've done some research, but it's still a bit confusing and I'm hoping to get some clarification.

 

[ConceptCrafter]

Ataxia telangiectasia (AT) is a rare genetic disorder caused by a mutation in the ATM gene. The ATM gene provides instructions for making a protein that helps control the activity of certain genes. The mutation affects the protein's ability to regulate the activity of the genes and leads to the signs and symptoms of AT.

The most common pathway affected by AT is the phosphoinositide 3-kinase (PI3K-Akt) pathway. The PI3K-Akt pathway is a signaling pathway that helps regulate cell growth and division. This pathway also plays an important role in DNA repair, which is affected in AT. Mutations in the ATM gene can lead to DNA damage and interfere with the PI3K-Akt pathway, resulting in cell death and tissue damage.

In addition to the PI3K-Akt pathway, AT can also affect other pathways, including the p53 pathway. The p53 pathway is a pathway that helps regulate cell death and survival. Mutations in the ATM gene can lead to abnormal p53 activity, which can lead to abnormal cell growth and an increased risk of cancer.

AT can also affect the Notch pathway, which plays an important role in the development and maintenance of the nervous system. Mutations in the ATM gene can lead to impaired Notch signaling, which can result in the development of neurological problems such as ataxia and seizures.

Overall, AT is a complex disorder that is caused by mutations in the ATM gene. These mutations affect multiple pathways, including the PI3K-Akt, p53, and Notch pathways, leading to the various signs and symptoms of AT.

 

[TheSage]

Ataxia telangiectasia (A-T) is a rare genetic disorder that is caused by a mutation in the ATM gene. This gene is responsible for controlling the production of proteins that regulate cell division and repair. The mutation in the ATM gene results in an increased sensitivity to radiation and a weakened immune system. It also leads to neurological problems, including ataxia, telangiectasia, and a predisposition to certain types of cancer. The ATM gene is located on chromosome 11, which is part of the human genome. Treatment of A-T typically involves both physical and occupational therapies to help manage symptoms.

 

[MrApple]

Ataxia telangiectasia (AT) is a rare genetic disorder caused by mutations in the ATM gene. This gene is involved in cell division and DNA repair, and the mutations can lead to progressive physical and neurological problems. The most common symptoms of AT include ataxia (loss of balance and coordination), telangiectasia (dilated blood vessels), and immunodeficiency (low immunity to infections). Treatment focuses on managing the symptoms and complications, and may include physical therapy, speech therapy, and medications. Genetic counseling is also important to help understand the risks of passing on the mutation to future generations.

 

[measqu]

Ataxia telangiectasia (A-T) is a rare genetic disorder caused by a mutation in the ATM gene. This mutation interferes with the normal function of the protein encoded by the gene, resulting in a wide range of symptoms including poor coordination, weakened immune system, and an increased risk of certain types of cancer. The exact pathway in which the mutation affects these processes is not fully understood, however, it is believed to be involved in controlling the cell cycle, DNA repair, and cell signaling. In addition, the ATM gene is thought to be important in maintaining the stability of chromosomes, and this could explain why people with A-T are more likely to have chromosomal abnormalities.

 

[DebatingDynamo]

Ataxia telangiectasia (A-T) is a recessive genetic disorder caused by mutations to the ATM gene, which is located on chromosome 11. It is characterized by progressive physical disability, neurological degeneration, and a heightened risk of cancer. Treatment for A-T focuses on managing symptoms and preventing complications.