Diagnostic amyloid proteomics: experience of the UK National Amyloidosis Centre
| Autor: | Dorota Rowczenio, Nicola A. Botcher, Guglielmo Verona, Paola Nocerino, Graham W. Taylor, Palma Mangione, Philip N. Hawkins, Diana Canetti, Angel Blanco, Janet A. Gilbertson, Vittorio Bellotti, Julian D. Gillmore, Lucia Di Vagno, Nigel B. Rendell |
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| Rok vydání: | 2020 |
| Předmět: |
Proteomics
0301 basic medicine Amyloid Clinical Biochemistry 030232 urology & nephrology Amyloidogenic Proteins Disease Bioinformatics 03 medical and health sciences 0302 clinical medicine Neurological Damage medicine Humans Amino Acid Sequence Enzymatic digestion business.industry Amyloidosis Biochemistry (medical) General Medicine medicine.disease United Kingdom 030104 developmental biology Patient database business Algorithms |
| Zdroj: | Clinical Chemistry and Laboratory Medicine (CCLM). 58:948-957 |
| ISSN: | 1437-4331 1434-6621 |
| Popis: | Systemic amyloidosis is a serious disease which is caused when normal circulating proteins misfold and aggregate extracellularly as insoluble fibrillary deposits throughout the body. This commonly results in cardiac, renal and neurological damage. The tissue target, progression and outcome of the disease depends on the type of protein forming the fibril deposit, and its correct identification is central to determining therapy. Proteomics is now used routinely in our centre to type amyloid; over the past 7 years we have examined over 2000 clinical samples. Proteomics results are linked directly to our patient database using a simple algorithm to automatically highlight the most likely amyloidogenic protein. Whilst the approach has proved very successful, we have encountered a number of challenges, including poor sample recovery, limited enzymatic digestion, the presence of multiple amyloidogenic proteins and the identification of pathogenic variants. Our proteomics procedures and approaches to resolving difficult issues are outlined. |
| Databáze: | OpenAIRE |
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