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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 as well as some heredofamilial periodic fever syndromes such as familial Mediterranean fever (FMF).
Apolipoprotein A-I (ApoAI) AApoAI Age-related amyloid occurring in the aortic intima as well as 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 and renal amyloidosis.[9]

Islet amyloid

Amylin		 AIAPP Islet cell amyloid in insulinomas, type II diabetes mellitus, and aging.[10]
Atrial natriuretic peptide AANP Isolated atrial amyloidosis of aging.[9]
Prolactin APro Prolactinomas, aging.[9]
Insulin Alns Localized amyloid complicating use of the insulin pump.[9]
Parathyroid hormone APTH Parathyroid tumors and aging.[9]
Glucagon-like peptide analog AGLP1 Localized amyloid complicating injections.[9]
Glucagon AGluc Glucagonomas.[9]
(Pro)somatostatin ASom Somatostatinomas.[9]
Cytoskeleton related Gelsolin AGel Hereditary neuropathic amyloid associated with corneal lattice dystrophy and cutis laxa (Meretoja syndrome).[11]

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.[12]
Transport protein Transthyretin (TTR); also known as Prealbumin ATTR Hereditary neuropathic and/or cardiopathic amyloids; vitreous amyloidosis; leptomeningeal or renal amyloidosis in some kindreds; senile systemic amyloidosis.[13]
Cerebrovascular/
neurodegeneration		 Amyloid precursor protein (APP) Abeta Hereditary and sporadic Alzheimer disease; congophilic cerebral angiopathy.[14,15]
Prion protein (PRP) APrPsc Hereditary and sporadic spongiform encephalopathies.[16]
BRI gene product ABri/ADan Hereditary dementias (British and Danish types).[17,18]
Cystatin C ACys Hereditary cerebrovascular hemorrhage with amyloidosis (Icelandic type).[19]
Transmembrane 106B (TMEM106B) ATMEM106B Frontotemporal lobar degeneration diseases.[9]
Coagulation protein Fibrinogen A alpha chain AFib Hereditary nephropathic amyloidosis.[20]
Enzyme Lysozyme ALys Hereditary nephropathic amyloidosis; may have marked hepatic, splenic, and gastrointestinal amyloid deposits.[20]
Lung surfactant protein Lung surfactant protein ASPC Interstitial lung disease.[21]
Other Kerato-epithelin Aker Various familial corneal dystrophies.[12]
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.[22]
Cathepsin K ACatK Tumor associated.[23]
Epithelial growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 (EFEMP1) AEFEMP1 Portal veins; age associated.[24]
Muscle specific Dysferlin DYSF Limb girdle muscular dystrophy.[25]
Anoctamin5 ANO5 Limb girdle muscular dystrophy.[26]
Human heterogeneous ribonucleoprotein D-like (hnRNPDL) LGMD D3 hnRNPDL limb girdle muscular dystrophy.[27]
Iatrogenic Interleukin 1 receptor antagonist protein AIL1KA Localized at sites of injection.[9]
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. Buxbaum JN, Dispenzieri A, Eisenberg DS, et al. Amyloid nomenclature 2022: update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee. Amyloid 2022; 29:213.
  10. Höppener JW, Ahrén B, Lips CJ. Islet amyloid and type 2 diabetes mellitus. N Engl J Med 2000; 343:411.
  11. Kiuru S. Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. Amyloid 1998; 5:55.
  12. Klintworth GK. The molecular genetics of the corneal dystrophies--current status. Front Biosci 2003; 8:d687.
  13. Connors LH, Lom A, Prokaeva T, et al. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid 2003; 10:160.
  14. Selkoe DJ. Alzheimer's disease: genes, proteins, and therapy. Physiol Revs 2001; 81:741.
  15. Revesz T, Ghiso J, Lashley T, et al. Cerebral amyloid angiopathies: a pathologic, biochemical, and genetic view. J Neuropathol Exp Neurol 2003; 62:885.
  16. Prusiner SB. Shattuck lecture--neurodegenerative diseases and prions. N Engl J Med 2001; 344:1516.
  17. 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.
  18. 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.
  19. Olafsson I, Grubb A. Hereditary cystatin C amyloid angiopathy. Amyloid 2000; 7:70.
  20. Hawkins PN. Hereditary systemic amyloidosis with renal involvement. J Nephrol 2003; 16:443.
  21. 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.
  22. 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.
  23. Linke RP, Serpell LC, Lottspeich F, Toyoda M. Cathepsin K as a novel amyloid fibril protein in humans. Amyloid 2017; 24:68.
  24. 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.
  25. Spuler S, Carl M, Zabojszcza J, et al. Dysferlin-deficient muscular dystrophy features amyloidosis. Ann Neurol 2008; 63:323.
  26. Soontrapa P, Liewluck T. Anoctamin 5 (ANO5) muscle disorders: A narrative review. Genes (Basel) 2022; 13:1736.
  27. Garcia-Pardo J, Bartolomé-Nafría A, Chaves-Sanjuan A, et al. Cryo-EM structure of hnRNPDL-2 fibrils, a functional amyloid associated with limb-girdle muscular dystrophy D3. Nat Commun 2023;14:239.

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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