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Transthyretin Glu54Leu-an unknown mutation within the Swedish population associated with amyloid cardiomyopathy and a unique fibril type
Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden.
Piteå Hosp, Dept Med, Piteå, Sweden.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Clinical and experimental pathology.
Umea Univ, Dept Med Biosci Med & Clin Genet, Lab Med, Clin Genet, Umea, Sweden.
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2019 (English)In: Scandinavian Journal of Clinical and Laboratory Investigation, ISSN 0036-5513, E-ISSN 1502-7686, Vol. 79, no 6, p. 372-376Article in journal (Refereed) Published
Abstract [en]

For the first time, we report of a Swedish family of five individuals with a TTR Glu54Leu (p. Glu74Leu) mutation in the transthyretin gene. This mutation has been previously described a few times in the literature, but no phenotypic or clinical description has been done before. The most common mutation in the Swedish population is TTRVal30Met and is mostly found in the Northern part of Sweden. Interestingly, the TTRGlu54Leu mutation was found in the same endemic area. The main phenotype of the TTR Glu54Leu patients is severe cardiomyopathy, which resulted in heart transplantation for the index person. As previously seen for ATTR amyloidosis patients with mainly cardiomyopathy, the amyloid fibrils consisted of a mixture of full-length and fragmented TTR species. However, western blot analyses detected a previously unrecognized band, indicating that these patients may have a third, so far unrecognized, fibril composition type that is distinct from the usual type A band pattern.

Place, publisher, year, edition, pages
TAYLOR & FRANCIS LTD , 2019. Vol. 79, no 6, p. 372-376
Keywords [en]
Amyloidosis, transthyretin, neuropathy, cardiomyopathy, amyloid fibril
National Category
Cardiac and Cardiovascular Systems
Identifiers
URN: urn:nbn:se:uu:diva-396073DOI: 10.1080/00365513.2019.1624977ISI: 000474016000001PubMedID: 31169435OAI: oai:DiVA.org:uu-396073DiVA, id: diva2:1366665
Funder
Knut and Alice Wallenberg FoundationKnut and Alice Wallenberg FoundationVästerbotten County CouncilAvailable from: 2019-10-30 Created: 2019-10-30 Last updated: 2019-10-30Bibliographically approved

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Ihse, ElisabetWestermark, Per
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Clinical and experimental pathologyDepartment of Immunology, Genetics and Pathology
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