Molecular mechanism of amyloidogenic mutations in hypervariable regions of antibody light chains. 2021

Georg J Rottenaicher, and Benedikt Weber, and Florian Rührnößl, and Pamina Kazman, and Ramona M Absmeier, and Manuel Hitzenberger, and Martin Zacharias, and Johannes Buchner
Center for Integrated Protein Science Munich at the Department Chemie, Technische Universität München, Garching, Germany.

Systemic light chain (AL) amyloidosis is a fatal protein misfolding disease in which excessive secretion, misfolding, and subsequent aggregation of free antibody light chains eventually lead to deposition of amyloid plaques in various organs. Patient-specific mutations in the antibody VL domain are closely linked to the disease, but the molecular mechanisms by which certain mutations induce misfolding and amyloid aggregation of antibody domains are still poorly understood. Here, we compare a patient VL domain with its nonamyloidogenic germline counterpart and show that, out of the five mutations present, two of them strongly destabilize the protein and induce amyloid fibril formation. Surprisingly, the decisive, disease-causing mutations are located in the highly variable complementarity determining regions (CDRs) but exhibit a strong impact on the dynamics of conserved core regions of the patient VL domain. This effect seems to be based on a deviation from the canonical CDR structures of CDR2 and CDR3 induced by the substitutions. The amyloid-driving mutations are not necessarily involved in propagating fibril formation by providing specific side chain interactions within the fibril structure. Rather, they destabilize the VL domain in a specific way, increasing the dynamics of framework regions, which can then change their conformation to form the fibril core. These findings reveal unexpected influences of CDR-framework interactions on antibody architecture, stability, and amyloid propensity.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D011487 Protein Conformation The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain). Conformation, Protein,Conformations, Protein,Protein Conformations
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000075363 Immunoglobulin Light-chain Amyloidosis A nonproliferative disorder of PLASMA CELLS characterized by excessive production and misfolding of IMMUNOGLOBULIN LIGHT CHAINS that form insoluble amyloid fibrils (see AMYLOID DEPOSITS) in various tissues. Clinical features include LIVER FAILURE; MULTIPLE MYELOMA; NEPHROTIC SYNDROME; RESTRICTIVE CARDIOMYOPATHY, and neuropathies. Monoclonal Immunoglobulin Deposition Disease,AL Amyloidosis,Amyloidosis, Immunoglobulin Light-chain,Amyloidosis, Primary,Primary Amyloidosis,Primary Systemic Amyloidosis,AL Amyloidoses,Amyloidoses, Primary,Amyloidoses, Primary Systemic,Amyloidosis, Immunoglobulin Light chain,Amyloidosis, Primary Systemic,Immunoglobulin Light chain Amyloidosis,Immunoglobulin Light-chain Amyloidoses,Primary Amyloidoses,Primary Systemic Amyloidoses,Systemic Amyloidoses, Primary,Systemic Amyloidosis, Primary
D000595 Amino Acid Sequence The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION. Protein Structure, Primary,Amino Acid Sequences,Sequence, Amino Acid,Sequences, Amino Acid,Primary Protein Structure,Primary Protein Structures,Protein Structures, Primary,Structure, Primary Protein,Structures, Primary Protein
D000682 Amyloid A fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of AMYLOID PLAQUES are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease. Amyloid Fibril,Amyloid Fibrils,Amyloid Substance,Fibril, Amyloid,Fibrils, Amyloid,Substance, Amyloid
D017510 Protein Folding Processes involved in the formation of TERTIARY PROTEIN STRUCTURE. Protein Folding, Globular,Folding, Globular Protein,Folding, Protein,Foldings, Globular Protein,Foldings, Protein,Globular Protein Folding,Globular Protein Foldings,Protein Foldings,Protein Foldings, Globular
D058225 Plaque, Amyloid Accumulations of extracellularly deposited AMYLOID FIBRILS within tissues. Amyloid Deposits,Plaques, Amyloid,Amyloid Plaques,Neuritic Plaques,Senile Plaques,Amyloid Deposit,Amyloid Plaque,Deposit, Amyloid,Deposits, Amyloid,Neuritic Plaque,Plaque, Neuritic,Plaque, Senile,Plaques, Neuritic,Plaques, Senile,Senile Plaque
D058227 Amyloidogenic Proteins Proteins that form the core of amyloid fibrils. For example, the core of amyloid A is formed from amyloid A protein, also known as serum amyloid A protein or SAA protein. Amyloid Protein,Amyloidogenic Protein,Amyloid Proteins,Protein, Amyloid,Protein, Amyloidogenic,Proteins, Amyloid,Proteins, Amyloidogenic
D022801 Complementarity Determining Regions Three regions (CDR1; CDR2 and CDR3) of amino acid sequence in the IMMUNOGLOBULIN VARIABLE REGION that are highly divergent. Together the CDRs from the light and heavy immunoglobulin chains form a surface that is complementary to the antigen. These regions are also present in other members of the immunoglobulin superfamily, for example, T-cell receptors (RECEPTORS, ANTIGEN, T-CELL). Complementarity Determining Region,Complementarity Determining Region 1,Complementarity Determining Region 2,Complementarity Determining Region 3,Complementarity Determining Region I,Complementarity Determining Region II,Complementarity Determining Region III,Complementarity-Determining Region,Complementarity-Determining Region 3,Hypervariable Region, Immunoglobulin,Hypervariable Regions, Immunoglobulin,Third Complementarity-Determining Region,Complementarity-Determining Region 3s,Complementarity-Determining Region, Third,Complementarity-Determining Regions,Complementarity-Determining Regions, Third,Immunoglobulin Hypervariable Region,Immunoglobulin Hypervariable Regions,Region, Complementarity Determining,Region, Immunoglobulin Hypervariable,Regions, Complementarity Determining,Regions, Complementarity-Determining,Regions, Immunoglobulin Hypervariable,Third Complementarity Determining Region,Third Complementarity-Determining Regions

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