First Report of Lysozyme Amyloidosis with p.F21L/T88N Amino Acid Substitutions in a Russian Family
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 depositio...
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2023-09-01
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| author | Mariya Yu. Suvorina Elena A. Stepanova Vilen V. Rameev Lidiya V. Kozlovskaya Anatoly S. Glukhov Anastasiya A. Kuznitsyna Alexey K. Surin Oxana V. Galzitskaya |
| author_facet | Mariya Yu. Suvorina Elena A. Stepanova Vilen V. Rameev Lidiya V. Kozlovskaya Anatoly S. Glukhov Anastasiya A. Kuznitsyna Alexey K. Surin Oxana V. Galzitskaya |
| author_sort | Mariya Yu. Suvorina |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T21:43:53Z |
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| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T21:43:53Z |
| publishDate | 2023-09-01 |
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| series | International Journal of Molecular Sciences |
| spelling | doaj.art-a61725034c9d4b65a5c095702c059ff62023-11-19T14:26:47ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-09-0124191445310.3390/ijms241914453First Report of Lysozyme Amyloidosis with p.F21L/T88N Amino Acid Substitutions in a Russian FamilyMariya Yu. Suvorina0Elena A. Stepanova1Vilen V. Rameev2Lidiya V. Kozlovskaya3Anatoly S. Glukhov4Anastasiya A. Kuznitsyna5Alexey K. Surin6Oxana V. Galzitskaya7Institute of Protein Research, Russian Academy of Sciences, 142290 Pushchino, RussiaFederal 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, RussiaTareev’s Clinic of Internal, Occupational Diseases and Rheumatology, Sechenov’s First Moscow State Medical University, 119021 Moscow, RussiaTareev’s Clinic of Internal, Occupational Diseases and Rheumatology, Sechenov’s First Moscow State Medical University, 119021 Moscow, RussiaInstitute of Protein Research, Russian Academy of Sciences, 142290 Pushchino, RussiaInstitute of Protein Research, Russian Academy of Sciences, 142290 Pushchino, RussiaInstitute of Protein Research, Russian Academy of Sciences, 142290 Pushchino, RussiaInstitute of Protein Research, Russian Academy of Sciences, 142290 Pushchino, RussiaLysozyme 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.https://www.mdpi.com/1422-0067/24/19/14453genetic testinghereditary systemic amyloidosishistologylysozyme amyloidosismass spectrometry |
| spellingShingle | Mariya Yu. Suvorina Elena A. Stepanova Vilen V. Rameev Lidiya V. Kozlovskaya Anatoly S. Glukhov Anastasiya A. Kuznitsyna Alexey K. Surin Oxana V. Galzitskaya First Report of Lysozyme Amyloidosis with p.F21L/T88N Amino Acid Substitutions in a Russian Family International Journal of Molecular Sciences genetic testing hereditary systemic amyloidosis histology lysozyme amyloidosis mass spectrometry |
| title | First Report of Lysozyme Amyloidosis with p.F21L/T88N Amino Acid Substitutions in a Russian Family |
| title_full | First Report of Lysozyme Amyloidosis with p.F21L/T88N Amino Acid Substitutions in a Russian Family |
| title_fullStr | First Report of Lysozyme Amyloidosis with p.F21L/T88N Amino Acid Substitutions in a Russian Family |
| title_full_unstemmed | First Report of Lysozyme Amyloidosis with p.F21L/T88N Amino Acid Substitutions in a Russian Family |
| title_short | First Report of Lysozyme Amyloidosis with p.F21L/T88N Amino Acid Substitutions in a Russian Family |
| title_sort | first report of lysozyme amyloidosis with p f21l t88n amino acid substitutions in a russian family |
| topic | genetic testing hereditary systemic amyloidosis histology lysozyme amyloidosis mass spectrometry |
| url | https://www.mdpi.com/1422-0067/24/19/14453 |
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