Abnormal sperm and photoreceptor axonemes in Usher's syndrome
D. G. Hunter, G. A. Fishman, R. S. Mehta and F. L. Kretzer
Axonemes are organelles that are composed of microtubule doublets and
singlets with a complex assembly of associated proteins. This study was
designed to investigate the possibility that an abnormal axoneme is
involved in the pathogenesis of Usher's syndrome. A masked structural and
functional analysis of sperm was performed on samples from ten patients
with Usher's syndrome and 33 controls, including duplicate samples from six
patients and three controls. In the functional analyses, there was a
significant decrease in patient sperm motility and velocity. Structurally,
there was a significant increase in tail abnormalities at both the light
and electron microscopic levels. Ejaculate volume and sperm concentration
were normal in the patient population. The presence of abnormal axonemes
was also confirmed in remnant photoreceptors of a whole eye donation from a
patient with Usher's syndrome. The data suggest that defective connecting
cilia axonemes may be involved in the irreversible, progressive loss of
photoreceptors in Usher's syndrome.
RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
Moore et al.
J. Med. Genet. 2006;43:326-333.
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Disease Expression in Usher Syndrome Caused by VLGR1 Gene Mutation (USH2C) and Comparison with USH2A Phenotype
Schwartz et al.
IOVS 2005;46:734-743.
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Late-Onset Autosomal Dominant Macular Dystrophy with Choroidal Neovascularization and Nonexudative Maculopathy Associated with Mutation in the RDS Gene
Khani et al.
IOVS 2003;44:3570-3577.
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Genes and Male Infertility: What Can Go Wrong?
Maduro et al.
J Androl 2003;24:485-493.
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Usher Syndrome Type 1 Associated With Primary Ciliary Aplasia
Tosi et al.
Arch Ophthalmol 2003;121:407-408.
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Myosin VIIa Participates in Opsin Transport through The Photoreceptor Cilium
Liu et al.
J. Neurosci. 1999;19:6267-6274.
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Uneven distribution of desmosterol and docosahexaenoic acid in the heads and tails of monkey sperm1
Connor et al.
J. Lipid Res. 1998;39:1404-1411.
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Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells
Self et al.
Development 1998;125:557-566.
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Complementary Deoxyribonucleic Acid Cloning and Characterization of a Putative Human Axonemal Dynein Light Chain Gene
Kastury et al.
J. Clin. Endocrinol. Metab. 1997;82:3047-3053.
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