Question

Which type of mutation in MEN2 most commonly causes Hirschsprung disease and pheochromocytoma, respectively?

A Loss of function, gain of function
B Gain of function, loss of function
C Duplication, loss of function
D Loss of function, duplication
E Deletion, duplication

Answer 1

In MEN2, both Hirschsprung disease and pheochromocytoma are most commonly associated with gain of function mutations. These mutations can affect cellular processes and lead to disease, illustrating the impact of specific types of genetic alterations on health.

Step-by-step explanation:

The mutation most commonly associated with Hirschsprung disease in MEN2 is a gain of function mutation, whereas the mutation most commonly associated with pheochromocytoma is also a gain of function mutation.

Germline mutations can result in various genetic diseases, and somatic mutations can lead to conditions such as cancer. Specific types of mutations in oncogenes or tumor suppressor genes can lead to abnormal cellular processes such as an unregulated phosphorylation cascade, that, in turn, can result in cancer. A dominant negative mutation, a subtype of gain of function, refers to a situation where the mutated gene product adversely affects the normal, wild-type product within the same cell. Deletion mutations, on the other hand, can lead to the loss of essential amino acids and significant health conditions, such as cystic fibrosis.