Hereditary Systemic Amyloidosis Due to Asp76Asn Variant β2-Microglobulin
Copyright policy )Hereditary Systemic Amyloidosis Due to Asp76Asn Variant β2-Microglobulin
We describe a kindred with slowly progressive gastrointestinal symptoms and autonomic neuropathy caused by autosomal dominant, hereditary systemic amyloidosis. The amyloid consists of Asp76Asn variant β(2)-microglobulin. Unlike patients with dialysis-related amyloidosis caused by sustained high plasma concentrations of wild-type β(2)-microglobulin, the affected members of this kindred had normal renal function and normal circulating β(2)-microglobulin values. The Asp76Asn β(2)-microglobulin variant was thermodynamically unstable and remarkably fibrillogenic in vitro under physiological conditions. Previous studies of β(2)-microglobulin aggregation have not shown such amyloidogenicity for single-residue substitutions. Comprehensive biophysical characterization of the β(2)-microglobulin variant, including its 1.40-Å, three-dimensional structure, should allow further elucidation of fibrillogenesis and protein misfolding.
- Mayo Clinic United States
- French National Centre for Scientific Research France
- University of Poitiers France
- University of Paris France
- University College London United Kingdom
Diarrhea, Male, MESH: Hydrogen-Ion Concentration, [SDV.IMM] Life Sciences [q-bio]/Immunology, Proteome, MESH: Pedigree, 610, MESH: Scalp, Quaternary, Familial, Humans, MESH: Fetal Blood, MESH: Amyloidosis, Dominant, Physiologic, Protein Structure, Quaternary, Genes, Dominant, MESH: Humans, MESH: Middle Aged, MESH: Electrodes, Middle Aged, Newborn, MESH: Monitoring, MESH: Infant, MESH: Genes, MESH: Male, MESH: Glass, Pedigree, MESH: Proteome, beta2-microglobulin, MESH: Diarrhea, MESH: Protein Structure, MESH: Sjogren's Syndrome, Sjogren's Syndrome, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, MESH: beta 2-Microglobulin, hereditary systemic amyloidosi, beta 2-Microglobulin, MESH: Female, Amyloidosis, Familial, Protein misfolding
Diarrhea, Male, MESH: Hydrogen-Ion Concentration, [SDV.IMM] Life Sciences [q-bio]/Immunology, Proteome, MESH: Pedigree, 610, MESH: Scalp, Quaternary, Familial, Humans, MESH: Fetal Blood, MESH: Amyloidosis, Dominant, Physiologic, Protein Structure, Quaternary, Genes, Dominant, MESH: Humans, MESH: Middle Aged, MESH: Electrodes, Middle Aged, Newborn, MESH: Monitoring, MESH: Infant, MESH: Genes, MESH: Male, MESH: Glass, Pedigree, MESH: Proteome, beta2-microglobulin, MESH: Diarrhea, MESH: Protein Structure, MESH: Sjogren's Syndrome, Sjogren's Syndrome, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, MESH: beta 2-Microglobulin, hereditary systemic amyloidosi, beta 2-Microglobulin, MESH: Female, Amyloidosis, Familial, Protein misfolding
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