A new article published in Cells discussed that ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics within the secretory, endocytic and lysosomal pathways. The authors elaborated that in bony vertebrates there are six ferlin genes encoding—in humans, these are dysferlin (DYSF), otoferlin (OTOF), myoferlin (MYOF), Fer1L5 and 6, and the long noncoding RNA Fer1L4. Mutations in DYSF can cause a range of muscle diseases with various clinical manifestations collectively known as dysferlinopathies – including limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. Meanwhile, a mutation in MYOF was linked to a muscular dystrophy accompanied by cardiomyopathy and mutations in OTOF can be the cause of non-syndromic deafness DFNB9. On the other hand, dysregulated expression of any human ferlin may be associated with the development of cancer.

Source: Cells. 2020 Feb 25;9(3). pii: E534. doi: 10.3390/cells9030534.