First Report of Lysozyme Amyloidosis with p.F21L/T88N Amino Acid Substitutions in a Russian Family

نویسندگان

چکیده

Lysozyme amyloidosis is caused by an amino acid substitution in the sequence of this protein. In our study, we described a clinical case lysozyme Russian family. work, detail histological changes tissues that appeared as result massive deposition amyloid aggregates affected almost all organ systems, with exception central nervous system. We determined type and mutations using mass spectrometry. Using spectrometry, protein composition tissue samples patient 1 (autopsy material) 2 (biopsy histologically confirmed deposits were analyzed. Amino substitutions p.F21L/T88N identified both sets sequencing gene members have shown inheritance these For first time, discovered mutation exon p.F21L gene, which, together p.T88N substitution, led to studied

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Amino Acid Sequence in Lysozyme

The previous paper in this series (Thompson, 1955) reported some amino acid sequences in lysozyme which were deduced from the structures of a number of small peptides isolated from partial acid hydrolysates by displacement chromatography on ion-exchange resins and further fractionation on paper chromatograms. Despite the success achieved by Partridge and co-workers (see Partridge & Brimley, 195...

متن کامل

Lysozyme amyloidosis – a case report and review of the literature

Lysozyme amyloidosis is an exceedingly rare hereditary autosomal dominant amyloidosis, which is characterized by the precipitation of lysozyme protein within the body, leading to multi-organ dysfunction. Herein, we present the case of a U.S. family affected by lysozyme amyloidosis. In particular, we report pericardial disease involvement leading to recurrent pericardial effusion, which to our k...

متن کامل

Scoring Amino Acid Substitutions In Φhage Genomes

Substitution matrices are among the most widely used scoring techniques : BLAST, Muscle and other alignment packages, all use them. However these matrices are general; they ignore organism specific properties and do not provide customized scoring schemes. We present a Φhage-specific scoring matrix based on the abundances of aligned substitutions. These matrices use information from approximatel...

متن کامل

in silico analysis of amino acid substitutions in dna gyrase subunit a

the broad consumption of antibiotics such as fluoroquinolones and the genetic adaption of opportunistic pathogenic bacteria including pseudomonas aeruginosa , has led to develop of floroquinolone-resistant strains of pseudomonas aeruginosa . thus, the aim of the present study is to reveal the types of hot spot mutations occurring in selected dna gyrase subunit a gene in fluoroquinolone-resistan...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: International Journal of Molecular Sciences

سال: 2023

ISSN: ['1661-6596', '1422-0067']

DOI: https://doi.org/10.3390/ijms241914453