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Mariya Yu Suvorina, Elena A Stepanova, Vilen V Rameev, Lidiya V Kozlovskaya, Anatoly S Glukhov, Anastasiya A Kuznitsyna, Alexey K Surin, Oxana V Galzitskaya
Institute of Protein Research, Russian Academy of Sciences, 142290 Pushchino, Russia.
Federal State Budgetary Educational Institution of Further Professional Education "Russian Medical Academy of Continuous Professional Education" of the Ministry of Healthcare of the Russian Federation, 125993 Moscow, Russia.
Int J Mol Sci. 2023 Sep 22;24(19):14453. doi: 10.3390/ijms241914453.
Lysozyme amyloidosis is caused by an amino acid substitution in the sequence of this protein. In our study, we described a clinical case of lysozyme amyloidosis in a Russian family. In our work, we described in detail the histological changes in tissues that appeared as a result of massive deposition of amyloid aggregates that affected almost all organ systems, with the exception of the central nervous system. We determined the type of amyloidosis and mutations using mass spectrometry. Using mass spectrometry, the protein composition of tissue samples of patient 1 (autopsy material) and patient 2 (biopsy material) with histologically confirmed amyloid deposits were analyzed. Amino acid substitutions p.F21L/T88N in the lysozyme sequence were identified in both sets of samples and confirmed by sequencing of the lysozyme gene of members of this family. We have shown the inheritance of these mutations in the lysozyme gene in members of the described family. For the first time, we discovered a mutation in the first exon p.F21L of the lysozyme gene, which, together with p.T88N amino acid substitution, led to amyloidosis in members of the studied family.
溶菌酶淀粉样变性是由该蛋白序列中的氨基酸取代引起的。在我们的研究中，我们描述了一个俄罗斯家族的溶菌酶淀粉样变性的临床病例。在我们的工作中，我们详细描述了组织的组织学变化，这些变化是由于大量淀粉样物质沉积而引起的，几乎影响了所有器官系统，除了中枢神经系统。我们使用质谱法确定了淀粉样变性的类型和突变。使用质谱法分析了经组织学证实有淀粉样物质沉积的患者 1（尸检材料）和患者 2（活检材料）的组织样本的蛋白质组成。在两组样本中均鉴定到溶菌酶序列中的 p.F21L/T88N 氨基酸取代，并通过对该家族成员的溶菌酶基因进行测序得到了证实。我们已经证明了在描述的家族成员中溶菌酶基因这些突变的遗传。我们首次发现溶菌酶基因第一外显子 p.F21L 的突变，它与 p.T88N 氨基酸取代一起导致了研究家族成员的淀粉样变性。
