ArticleJournal of the American Society of Nephrology : JASN2017
Hereditary Lysozyme Amyloidosis Variant p.Leu102Ser Associates with Unique Phenotype.
Article in Journal of the American Society of Nephrology : JASN, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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17 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Pharmacological treatment for familial amyloid polyneuropathy.The Cochrane database of systematic reviews · 2020Pooled it
- Diversity of Aβ aggregates produced in a gut-based Drosophila model of Alzheimer's disease.PloS one · 2025Article
- Cryo-EM structure of a lysozyme-derived amyloid fibril from hereditary amyloidosis.Nature communications · 2024Article
- Effect of dynamic exclusion and the use of FAIMS, DIA and MALDI-mass spectrometry imaging with ion mobility on amyloid protein identification.Clinical proteomics · 2024Article
- First Report of Lysozyme Amyloidosis with p.F21L/T88N Amino Acid Substitutions in a Russian Family.International journal of molecular sciences · 2023Article
- The impact of folding modes and deuteration on the atomic resolution structure of hen egg-white lysozyme.Acta crystallographica. Section D, Structural biology · 2021Article
- Elevated temperatures accelerate the formation of toxic amyloid fibrils of hen egg-white lysozyme.Veterinary medicine and science · 2021Article
- Molecular Dynamics of Lysozyme Amyloid Polymorphs Studied by Incoherent Neutron Scattering.Frontiers in molecular biosciences · 2021Article
- Renal amyloidosis: an update on diagnosis and pathogenesis.Protoplasma · 2020Review
- Article
- Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review.BMC nephrology · 2019Review
- Proteomic Analysis for the Diagnosis of Fibrinogen Aα-chain Amyloidosis.Kidney international reports · 2019Article
- First Report of Hereditary Lysozyme Amyloidosis in a South Asian Family.Case reports in hematology · 2019Article
- Pathology and diagnosis of renal non-AL amyloidosis.Journal of nephrology · 2018Review
- Hereditary lysozyme amyloidosis with sicca syndrome, digestive, arterial, and tracheobronchial involvement: case-based review.Clinical rheumatology · 2017Review
- Diagnostic Immunostaining of Renal Biopsies: An Overview of Markers for Glomerular Diseases.Glomerular diseasesArticle
- Kidney Biopsy Corner: Amyloidosis.Glomerular diseasesArticle
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysozyme amyloidosis (ALys) is a rare form of hereditary amyloidosis that typically manifests with renal impairment, gastrointestinal (GI) symptoms, and sicca syndrome, whereas cardiac involvement is exceedingly rare and neuropathy has not been reported. Here, we describe a 40-year-old man with renal impairment, cardiac and GI symptoms, and peripheral neuropathy. Renal biopsy specimen analysis revealed amyloidosis with extensive involvement of glomeruli, vessels, and medulla. Amyloid was also detected in the GI tract. Echocardiographic and electrocardiographic findings were consistent with cardiac involvement. Proteomic analysis of Congo red-positive renal and GI amyloid deposits detected abundant lysozyme C protein. DNA sequencing of the lysozyme gene in the patient and his mother detected a heterozygous c.305T>C alteration in exon 3, which causes a leucine to serine substitution at codon 102 (Human Genome Variation Society nomenclature: p.Leu102Ser; legacy designation: L84S). We also detected the mutant peptide in the proband's renal and GI amyloid deposits. PolyPhen analysis predicted that the mutation damages the encoded protein. Molecular dynamics simulations suggested that the pathogenesis of ALys p.Leu102Ser is mediated by shifting the position of the central β-hairpin coordinated with an antiparallel motion of the C-terminal helix, which may alter the native-state structural ensemble of the molecule, leading to aggregation-prone intermediates.
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