Role in Disease
Germline mutations in the gene can cause familial paraganglioma (in old nomenclature, Paraganglioma Type PGL4). The same condition is often called familial pheochromocytoma. Less frequently, renal cell carcinoma can be caused by this mutation.
Paragangliomas related to SDHB mutations have a high rate of malignancy. When malignant, treatment is currently the same as for any malignant paraganglioma/pheochromocytoma.
Read more about this topic: SDHB
Famous quotes containing the words role in, role and/or disease:
“Certainly parents play a crucial role in the lives of individuals who are intellectually gifted or creatively talented. But this role is not one of active instruction, of teaching children skills,... rather, it is support and encouragement parents give children and the intellectual climate that they create in the home which seem to be the critical factors.”
—David Elkind (20th century)
“Of course, some men are very effective caregivers [of elderly parents]. But this situation occurs far less frequently for males than females, because it is a role reversal. For women, caregiving is an expected duty; for men, it is an unexpected expression of love or devotion.”
—Tish Sommers (20th century)
“Smoking ... is downright dangerous. Most people who smoke will eventually contract a fatal disease and die. But they don’t brag about it, do they? Most people who ski, play professional football or drive race cars, will not die—at least not in the act—and yet they are the ones with the glamorous images, the expensive equipment and the mythic proportions. Why this should be I cannot say, unless it is simply that the average American does not know a daredevil when he sees one.”
—Fran Lebowitz (b. 1950)