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Pathology Amyloidosis b9e1720e

Which type of amyloidosis is caused by mutations in transthyretin gene?

A
Familial Mediterranean fever
B
Familial amyloidosis polyneuropathy
C
Dialysis associated amyloidosis
D
Prion protein associated amyloidosis
High-Yield Explanation
Transthyretin (TTR) is a normal serum protein that binds and transpos thyroxine and retinol. Several distinct mutant forms of TTR (and its fragments) are deposited in a group of genetically determined disorders referred to as familial amyloid polyneuropathies. Normal TTR is also deposited (Due to overproduction) in the hea of aged individuals (senile systemic amyloidosis).

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