Biomarkers in immunoglobulin light chain amyloidosis
2017
Immunoglobulin light chain amyloidosis (AL amyloidosis - ALA)
is a monoclonal gammopathy characterized by presence of
aberrant plasma cells producing amyloidogenic immunoglobulin
light chains. This leads to formation of amyloid fibrils in
various organs and tissues, mainly in heart and kidney, and
causes their dysfunction. As amyloid depositing in target
organs is irreversible, there is a big effort to identify bio
marker that could help to distinguish ALA from other monoclonal
gammopathies in the early stages of disease, when amyloid
deposits are not fatal yet. High throughput technologies bring
new opportunities to modern cancer research as they enable to
study disease within its complexity. Sophisticated methods such
as next generation sequencing, gene expression profiling and
circulating microRNA profiling are new approaches to study
aberrant plasma cells from patients with light chain
amyloidosis and related diseases. While generally known
mutation in multiple myeloma patients (KRAS, NRAS, MYC, TP53)
were not found in ALA, number of mutated genes is comparable.
Transcriptome of ALA patients proves to be more similar to
monoclonal gammopathy of undetermined significance patients,
moreover level of circulating microRNA, that are known to
correlate with heart damage, is increased in ALA patients,
where heart damage in ALA typical symptom.
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