Publication: Current knowledge of dystrophin and dystrophin-associated proteins in the retina
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Date
2000
Authors
Ueda, H. ; Baba, T. ; Ohno, S.
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Publisher
Murcia : F. Hernández
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DOI
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info:eu-repo/semantics/article
Description
Abstract
Dramatical development of molecular
genetics has been disclosing the molecular mechanism
of Duchenne muscular dystrophy (DMD) and Becker
muscular dystrophy (RMD). DMD gene product,
dystrophin, is a submembranous cytoskeletal protein and
many dystrophin-associated proteins (DAPs) have been
identified, such as utrophin, dystroglycans, sarcoglycans,
syntrophins and dystrobrevins. Dystrophin and DAPs are
very important proteins not only for skeletal, cardiac, or
smooth muscles but also for peripheral and central
nervous systems including the retina. The retina has
been extensively examined to demonstrate that
dystrophin and B-dystroglycan localize at the
photoreceptor terminal, and their deficiency produces
the abnormal neurotransmission between photoreceptor
cells and ON-bipolar cells. Dystrophin has seven
isoforms in variable tissues, and the retina contains fulllength
dystrophin (Dp427), Dp260, and Dp71. Recent
studies have demonstrated that Dp71 localizes in the
inner limiting membrane (INL) and around the blood
vessel, and Dp260 is expressed in the outer plexiform
layer (OPL). B-dystroglycan is also expressed in the same regions as well as dystrophin, but it remains
unclear whether other DAPs are expressed in the retina
or not. It is generally assumed that dystrophin functions
to stabilize muscle fibers with DAPs by linking the
sarcolemma to the basement membrane, but its function
in the retina is totally unknown so far.
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