Causative mutations

Causative mutations are changes in the genetic code that directly lead to a disease or disorder. These mutations alter specific genes, disrupting normal biological functions. Unlike other genetic variations that may have no effect, causative mutations are responsible for causing certain health conditions, such as inherited diseases. Identifying these mutations helps doctors understand the origin of a disease, guiding diagnosis and treatment options. In essence, causative mutations are the genetic "cause" behind some medical conditions, linking specific changes in DNA to their physical effects on the body.