Disease
Just as miRNA is involved in the normal functioning of eukaryotic cells, so has dysregulation of miRNA been associated with disease.[140] A manually curated, publicly available database, miR2Disease, documents known relationships between miRNA dysregulation and human disease.[141]
Inherited diseases
A mutation in the seed region of miR-96, causes hereditary progressive hearing loss.[142]
A mutation in the seed region of miR-184, causes hereditary keratoconus with anterior polar cataract.[143]
Deletion of the miR-17~92 cluster, causes skeletal and growth defects.[144]
Cancer
Role of miRNA in a cancer cell
The first human disease known to be associated with miRNA deregulation was chronic lymphocytic leukemia.[46] Many other miRNAs also have links with cancer[46] and accordingly are sometimes referred to as “oncomirs“. In malignant B cells miRNAs participate in pathways fundamental to B cell development like B-cell receptor (BCR) signalling, B-cell migration/adhesion, cell-cell interactions in…
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