Disease relevance of FER1L3

• Myoferlin, a candidate gene and potential modifier of muscular dystrophy [1].
• Myoferlin is a novel protein of unknown function with high homology to dysferlin, the gene mutations of which cause limb girdle muscular dystrophy type 2B and Miyoshi myopathy [2].

High impact information on FER1L3

• The two other known members of this family, dysferlin and myoferlin, both have six predicted C2 domains [3].
• We found upregulation of myoferlin at the membrane in mdx skeletal muscle [1].
• Thus, myoferlin ( MYOF ) is a candidate gene for muscular dystrophy and cardiomyopathy, or possibly a modifier of the muscular dystrophy phenotype [1].
• Myoferlin mRNA was highly expressed in cardiac muscle and to a lesser degree in skeletal muscle [1].
• Within the cell, myoferlin was associated with the plasma membrane but, unlike dysferlin, myoferlin was also associated with the nuclear membrane [1].

Biological context of FER1L3

• In this report we describe the third human ferlin gene, FER1L3, which maps to chromosome 10q23 [4].
• Sequence and predicted structural comparisons have highlighted the high degree of similarity of dysferlin and FER1L3, which have sequences corresponding to six C2 domains and which share more than 60% amino acid sequence identity [4].
• Myoferlin null myoblasts undergo initial fusion events, but they form large myotubes less efficiently in vitro, consistent with a defect in a later stage of myogenesis [5].

Anatomical context of FER1L3

• The electron microscopy of single immunogold labeled samples for myoferlin showed the presence of the molecular signal along the normal muscle cell membrane [2].
• Immunohistochemical analysis showed that the antibodies against myoferlin and dysferlin clearly stained the normal human myofiber surface membranes [2].
• Normal myoblast fusion requires myoferlin [5].
• These data support a role for myoferlin in the maturation of myotubes and the formation of large myotubes that arise from the fusion of myoblasts to multinucleate myotubes [5].
• The transverse red and white muscle area, the superficial red muscle fibres area and their percentages of mitochondria (%mit), myofibrils (%myof) and sarcoplasm (%sarc) were determined in the Mediterranean teleost gilthead sea bream, Sparus aurata (L.). Fish aged from hatching to 78 days were studied [6].

References