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Protein precursor of amyloid deposits

Protein precursor of amyloid deposits
Protein class Precursor protein (abbreviation) Amyloid type Clinical type
Apolipoproteins Serum amyloid A (SAA) protein AA Associated with amyloid complicating chronic infections or inflammatory diseases, and some heredofamilial periodic fever syndromes such as familial Mediterranean fever (FMF).
Apolipoprotein A-I (ApoAI) AApoAI Age-related amyloid occurring in the aortic intima, and some hereditary neuropathic or cardiopathic amyloidoses.[1,2] May deposit in heart, liver, or kidney; C-terminal variants deposit in larynx and skin.
Apolipoprotein A-II (ApoAII) AApoAII Some hereditary nephropathic amyloidoses.[3]
Apolipoprotein A-IV (ApoAIV) AApoAIV Renal (medullary) and cardiac amyloidosis.[4,5]
Apolipoprotein C-II (ApoCII) AApoCII Some hereditary nephropathic amyloidoses.[6]
Apolipoprotein C-III (ApoCIII) AApoCIII Severe renal amyloidosis.[7]
Immunoglobulin (Ig) gene superfamily Ig L chain/Ig H chains (IgL/IgH) AL/AH Primary and myeloma-associated amyloidosis. May be systemic or localized.
Beta-2 microglobulin Abeta2m Dialysis amyloidosis. Variant molecule has been described in a family affected by gastrointestinal disease, autonomic neuropathy, and sicca syndrome.[8]
Neuroendocrine (Pro)Calcitonin ACal

Amyloid complicating C-cell thyroid tumors.

Renal amyloid.

Islet amyloid

Amylin		 AIAPP Islet cell amyloid in insulinomas, type II diabetes mellitus, and aging.[9]
Atrial natriuretic peptide AANF Isolated atrial amyloidosis of aging.
Prolactin APro Prolactinomas, aging.
Insulin Alns Localized amyloid complicating use of the insulin pump.
Cytoskeleton related Gelsolin AGel Hereditary neuropathic amyloid associated with corneal lattice dystrophy and cutis laxa (Meretoja syndrome).[10]

Keratin type I
Cytoskeletal 14

Keratin type II
Cytoskeletal 5		 Nomenclature to be revised

Lichen amyloidosis.

Macular amyloidosis.
Keratoepithelin AKer Hereditary granular, lattice, and Avellino corneal dystrophies.[11]
Transport protein Transthyretin (TTR); also known as Prealbumin ATTR Hereditary neuropathic and/or cardiopathic amyloids; vitreous amyloidosis; leptomeningeal or renal amyloid in some kindreds; senile systemic amyloidosis.[12]
Cerebrovascular/
neurodegeneration		 Amyloid precursor protein (APP) Abeta Hereditary and sporadic Alzheimer disease; congophilic cerebral angiopathy.[13,14]
Prion protein (PRP) APrPsc Hereditary and sporadic spongiform encephalopathies.[15]
BRI gene product ABri/ADan Hereditary dementias (British and Danish types).[16,17]
Cystatin C ACys Hereditary cerebrovascular hemorrhage with amyloidosis (Icelandic type).[18]
Coagulation protein Fibrinogen A alpha chain AFib Hereditary nephropathic amyloidosis.[19]
Enzyme Lysozyme ALys Hereditary nephropathic amyloidosis; may have marked hepatic, splenic, and gastrointestinal amyloid deposits.[19]
Lung surfactant protein Lung surfactant protein ASPC Interstitial lung disease.[20]
Other Kerato-epithelin Aker Various familial corneal dystrophies.[11]
Lactoferrin ALac Corneal amyloidosis associated with trichiasis.
Odontogenic ameloblast-associated protein AOAAP Calcifying epithelial odontogenic tumors (CEOTs).
Semenogelin 1 ASem1 Senile seminal vesicle amyloid.
Lactadherin AMed Senile aortic amyloid; media deposition.
Leukocyte chemotactic factor 2 ALect2 Nephropathic or hepatic amyloid.
Corneodesmosin ACor Localized amyloid involving cornified epithelia, hair follicles.
Enfuvirtide AEnf Localized amyloid occurring at the injection site of an HIV therapeutic.[21]
Cathepsin K ACatK Tumor associated.[22]
Epithelial growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 (EFEMP1) AEFEMP1 Portal veins; age associated.[23]
References:
  1. Mucchiano GI, Haggqvist B, Sletten K, Westermark P. Apolipoprotein A-1-derived amyloid in atherosclerotic plaques of the human aorta. J Pathol 2001; 193:270.
  2. de Sousa MM, Vital C, Ostler D, et al. Apolipoprotein AI and transthyretin as components of amyloid fibrils in a kindred with apoAI Leu178His amyloidosis. Am J Pathol 2000; 156:1911.
  3. Benson MD, Liepnieks JJ, Yazaki M, et al. A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene. Genomics 2001; 72:272.
  4. Said SM, Sethi S, Valeri AM, et al. Renal amyloidosis: origin and clinicopathologic correlations of 474 recent cases. Clin J Am Soc Nephrol 2013; 8:1515.
  5. Bois MC, Dasari S, Mills JR, et al. Apolipoprotein A-IV-associated cardiac amyloidosis. J Am Coll Cardiol 2017; 69:2248.
  6. Nasr SH, Dasari S, Hasadsri L, et al. Novel type of renal amyloidosis derived from apolipoprotein-CII. J Am Soc Nephrol 2016.
  7. Valleix S, Verona G, Jourde-Chiche N, et al. D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile. Nat Commun 2016; 7:10353.
  8. Valleix S, Gillmore JD, Bridoux F, et al. Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin. N Engl J Med 2012; 366:2276.
  9. Höppener JW, Ahrén B, Lips CJ. Islet amyloid and type 2 diabetes mellitus. N Engl J Med 2000; 343:411.
  10. Kiuru S. Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. Amyloid 1998; 5:55.
  11. Klintworth GK. The molecular genetics of the corneal dystrophies--current status. Front Biosci 2003; 8:d687.
  12. Connors LH, Lom A, Prokaeva T, et al. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid 2003; 10:160.
  13. Selkoe DJ. Alzheimer's disease: genes, proteins, and therapy. Physiol Revs 2001; 81:741.
  14. Revesz T, Ghiso J, Lashley T, et al. Cerebral amyloid angiopathies: a pathologic, biochemical, and genetic view. J Neuropathol Exp Neurol 2003; 62:885.
  15. Prusiner SB. Shattuck lecture--neurodegenerative diseases and prions. N Engl J Med 2001; 344:1516.
  16. Vidal R, Frangione B, Rostagno A, et al. A stop-codon mutation in the BRI gene associated with familial British dementia. Nature 1999; 399:776.
  17. Gibson G, Gunasekera N, Lee M, et al. Oligomerization and neurotoxicity of the amyloid ADan peptide implicated in familial Danish dementia. J Neurochem 2004; 88:281.
  18. Olafsson I, Grubb A. Hereditary cystatin C amyloid angiopathy. Amyloid 2000; 7:70.
  19. Hawkins PN. Hereditary systemic amyloidosis with renal involvement. J Nephrol 2003; 16:443.
  20. Willander H, Askarieh G, Landreh M, et al. High-resolution structure of a BRICHOS domain and its implications for anti-amyloid chaperone activity on lung surfactant protein C. Proc Natl Acad Sci U S A 2012; 109:2325.
  21. Naujokas A, Vidal CI, Mercer CE, et al. A novel form of amyloid deposited at the site of enfuvirtide injection. J Cutan Pathol 2012; 39:220.
  22. Linke RP, Serpell LC, Lottspeich F, Toyoda M. Cathepsin K as a novel amyloid fibril protein in humans. Amyloid 2017; 24:68.
  23. Dao LN, Kurtin PJ, Smyrk TC, et al. The novel form of amyloidosis derived from EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) preferentially affects the lower gastrointestinal tract of elderly females. Histopathology 2021; 78:459.
Adapted from: Benson MD, Buxbaum JN, Eisenberg DS, et al. Amyloid nomenclature 2020: Update and recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid 2020; 27:217.
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