Abstract
This study examined the ultrastructural morphology and posttranslationally modified a-tubulin isoforms in the sperm flagella of a patient presenting with infertility and retinal degeneration. Clinical evaluation showed impaired motility and gross morphological abnormalities of the sperm and a rod-dominant retinal degeneration with midperipheral pigment dumping and scattered bone spicules. Other neurological indications included delayed neuroelectric transmission in the auditory brainstem and a temporal lobe seizure disorder. Ultra-structural analysis showed that 46% of sperm axonemes had missing and/or misplaced doublets compared with 10% to 12% in control subjects. ELISA analysis showed hypoacetylation of α-tubulin (30% of control) but normal levels of α-tubulin tyrosination. Tubulin acetyltransferase specific activity was also 30% of control activity. These characteristics may be indicative of microtubule instability leading to the pathological consequences described.
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