Amyloid fibril composition within hereditary Val30Met (p. Val50Met) transthyretin amyloidosis families

PloS One
O B SuhrElisabet Ihse

Abstract

The amyloid fibril in hereditary transthyretin (TTR) Val30Met (pVal50Met) amyloid (ATTR Val30Met) amyloidosis is composed of either a mixture of full-length and TTR fragments (Type A) or of only full-length TTR (Type B). The type of amyloid fibril exerts an impact on the phenotype of the disease, and on the outcome of diagnostic procedures and therapy. The aim of the present study was to investigate if the type of amyloid fibril remains the same within ATTR Val30Met amyloidosis families. Fifteen families were identified in whom at least two first-degree relatives had their amyloid fibril composition determined. The type of ATTR was determined by Western blot in all but two patients. For these two patients a positive 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy indicated ATTR Type A. In 14 of the 15 families, the same amyloid fibril composition was noted irrespective of differences in age at onset. In the one family, different ATTR fibril types was found in two brothers with similar ages at onset. Family predisposition appears to have an impact on amyloid fibril composition in members of the family irrespective of their age at onset of disease, but if genetically determined, the gene/genes are likely to be sit...Continue Reading

References

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Citations

Aug 1, 2019·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Isabel Conceição
Sep 27, 2019·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Ole B Suhr
Jun 21, 2019·International Journal of Molecular Sciences·Gil Yong ParkSeong Soo A An
Aug 4, 2020·World Journal of Radiology·Tom Kai Ming WangBo Xu
Nov 15, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Fiore ManganelliDavide Pareyson
May 8, 2021·Journal of the Peripheral Nervous System : JPNS·Stefano TozzaFiore Manganelli
Dec 23, 2019·JACC. Cardiovascular Imaging·Maria Beatrice MusumeciClaudio Rapezzi

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Methods Mentioned

BETA
biopsies
PCR
biopsy

Software Mentioned

Prism

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