Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype

作者：Schubert Timm; Gleiser Corinna; Heiduschka Peter; Franz Christoph; Nagel Wolfrum Kerstin; Sahaboglu Ayse; Weisschuh Nicole; Eske Gordon; Rohbock Karin; Rieger Norman; Paquet Durand Francois; Wissinger Bernd; Wolfrum Uwe; Hirt Bernhard; Singer Wibke; Ruettiger Lukas; Zimmermann Ulrike; Knipper Marlies^*

来源：Cellular and Molecular Life Sciences, 2015, 72(20): 3953-3969.

DOI：10.1007/s00018-015-1913-3

• Bipolar cell
• Inner retina
• Outer retina
• Synapse
• Stereocilia
• Translocator protein TSPO
• Choriocapillaris
• Mouse model

The unconventional myosin VI, a member of the actin-based motor protein family of myosins, is expressed in the retina. Its deletion was previously shown to reduce amplitudes of the a- and b-waves of the electroretinogram. Analyzing wild-type and myosin VI-deficient Snell's Waltzer mice in more detail, the expression pattern of myosin VI in retinal pigment epithelium, outer limiting membrane, and outer plexiform layer could be linked with differential progressing ocular deficits. These encompassed reduced a-waves and b-waves and disturbed oscillatory potentials in the electroretinogram, photoreceptor cell death, retinal microglia infiltration, and formation of basal laminar deposits. A phenotype comprising features of glaucoma (neurodegeneration) and age-related macular degeneration could thus be uncovered that suggests dysfunction of myosin VI and its variable cargo adaptor proteins for membrane sorting and autophagy, as possible candidate mediators for both disease forms.

• 出版日期2015-11