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This type is caused by mutations of proteins involved in amyloid formation, including transthyretin (TTR), fibrinogen, apolipoprotein A1, or apolipoprotein A2. Due to the multiple number of potential genetic causes the incidence of this form is variable. The vast majority of familial cardiac amyloidosis still present after the age of 60. [4]
Amyloid cardiomyopathy (stiff heart syndrome) [5] is a condition resulting in the death of part of the myocardium (heart muscle). It is associated with the systemic production and release of many amyloidogenic proteins , especially immunoglobulin light chain or transthyretin (TTR). [ 6 ]
Amyloid shows up as homogeneous pink material in lamina propria and around blood vessels. 20× magnification. Amyloids are aggregates of proteins characterised by a fibrillar morphology of typically 7–13 nm in diameter , a β-sheet secondary structure (known as cross-β) and ability to be stained by particular dyes, such as Congo red . [ 1 ]
Due to this resistance to degradation, when amyloid fibrils accumulate in the heart's walls, specifically the left ventricle, rigidity prevents the heart from properly relaxing and refilling with blood: this is called diastolic dysfunction which can ultimately lead to heart failure. [2]
Amyloid deposits in tissue can cause enlargement of structures. Twenty percent of people with AL amyloidosis have an enlarged tongue, that can lead to obstructive sleep apnea, difficulty swallowing, and altered taste. [11] Tongue enlargement does not occur in ATTR or AA amyloidosis. [10] Deposition of amyloid in the throat can cause hoarseness ...
Amyloid light-chain (AL) amyloidosis, also known as primary amyloidosis, is the most common form of systemic amyloidosis. [1] The disease is caused when a person's antibody -producing cells do not function properly and produce abnormal protein fibers made of components of antibodies called light chains .
20219 Ensembl ENSG00000132703 ENSMUSG00000026542 UniProt P02743 P12246 RefSeq (mRNA) NM_001639 NM_011318 RefSeq (protein) NP_001630 NP_035448 Location (UCSC) Chr 1: 159.59 – 159.59 Mb Chr 1: 172.72 – 172.72 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse The serum amyloid P component (SAP) is the identical serum form of the amyloid P component (AP), a 25 kDa pentameric protein ...
Serum amyloid A1 (SAA1) is a protein that in humans is encoded by the SAA1 gene. [5] [6] [7] SAA1 is a major acute-phase protein mainly produced by hepatocytes in response to infection, tissue injury and malignancy. [8] When released into blood circulation, SAA1 is present as an apolipoprotein associated with high-density lipoprotein (HDL). [9]
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