Author
Christian Haupt
Bio: Christian Haupt is an academic researcher. The author has contributed to research in topics: Fibril & AL amyloidosis. The author has an hindex of 1, co-authored 1 publications receiving 1 citations.
Topics: Fibril, AL amyloidosis
Papers
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06 Aug 2021
TL;DR: Recent biochemical and biophysical studies that have expanded knowledge on how versatile the structure of AL fibrils in patients is are reviewed and highlighted their implications for the molecular mechanism of fibril formation in AL amyloidosis are highlighted.
Abstract: The formation and deposition of fibrils derived from immunglobulin light chains is a hallmark of systemic AL amyloidosis. A particularly remarkable feature of the disease is the diversity and complexity in pathophysiology and clinical manifestations. This is related to the variability of immunoglobulins, as virtually every patient has a variety of mutations resulting in their own unique AL protein and thus a unique fibril deposited in the body. Here, I review recent biochemical and biophysical studies that have expanded our knowledge on how versatile the structure of AL fibrils in patients is and highlight their implications for the molecular mechanism of fibril formation in AL amyloidosis.
2 citations
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TL;DR: In this article, high-resolution structures of amyloid fibrils formed from normally-folded proteins have revealed non-native conformations of the polypeptide chains, in contrast to earlier models that posited a role for assembly of partially folded proteins.
28 citations
TL;DR: In this paper , the first case of concurrent AL amyloidosis and a subclass of MGRS, light chain proximal tubulopathy (LCPT), was reported in a 53-year-old female with smoldering myeloma immunoglobulin G kappa.
Abstract: Due to differences in the protein folding mechanisms, it is exceedingly rare for amyloid light chain (AL) amyloidosis and monoclonal gammopathy of renal significance (MGRS) to coexist. We herein report the first case of concurrent AL amyloidosis and a subclass of MGRS, light chain proximal tubulopathy (LCPT). The 53‐year‐old female was diagnosed with smoldering myeloma immunoglobulin G kappa and AL amyloidosis with deposits in fat and gastrointestinal tissue. The kidney biopsy did not show amyloid deposits but electron microscopy revealed the presence of LCPT with crystal formation in proximal tubular epithelial cells. This case illustrates the complex pathophysiology of protein deposition in monoclonal gammopathies.