Question

Which of the following features would you expect to find in a sample taken from a patient with ataxia-telangiectasia (Loss of ATM protein function)?

a) Increased DNA repair capacity
b) Decreased telangiectasia
c) Elevated ATM protein levels
d) Defective DNA damage response

Answer 1

In ataxia-telangiectasia, due to the loss of ATM protein function, one would find a defective DNA damage response, making option d) the correct answer.

Step-by-step explanation:

A patient with ataxia-telangiectasia, which is characterized by a loss of ATM protein function, would exhibit a defective DNA damage response.

The ATM protein is crucial for the recognition of DNA damage and the initiation of repair processes. In the absence of functional ATM protein, cells are unable to respond effectively to DNA damage, leading to an increased risk of developing cancer. Thus, the presence of defective DNA repair mechanisms is the hallmark of ataxia-telangiectasia.

Given this information, the feature you would expect to find in a sample taken from a patient with ataxia-telangiectasia would be: