Ultrastructural and biochemical analysis of sperm flagella from an infertile man with a rod-dominant retinal degeneration.
This study examined the ultrastructural morphology and posttranslationally modified alpha-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 clumping and scattered bone spicules. Other neurological indications included delayed neuroelectric transmission in the auditory brainstem and a temporal lobe seizure disorder. Ultrastructural 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 alpha-tubulin (30% of control) but normal levels of alpha-tubulin tyrosination. Tubulin acetyl-transferase specific activity was also 30% of control activity. These characteristics may be indicative of microtubule instability leading to the pathological consequences described.
Gentleman
S
S
Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892-2740, USA.
Kaiser-Kupfer
M I
MI
Sherins
R J
RJ
Caruso
R
R
Robison
W G
WG
Lloyd-Muhammad
R A
RA
Crawford
M A
MA
Pikus
A
A
Chader
G J
GJ
D000123:Acetyltransferases / Q000378:metabolism; D000328:Adult; D016057:Evoked Potentials, Auditory, Brain Stem; D006311:Hearing Disorders / Q000150:complications; D006801:Humans; D007248:Infertility, Male / Q000150:complications* / Q000378:metabolism*; D008297:Male; D012162:Retinal Degeneration / Q000150:complications* / Q000378:metabolism*; D013094:Spermatozoa / Q000737:chemistry / Q000648:ultrastructure; D014404:Tubulin / Q000378:metabolism
D014404:Tubulin; D000123:Acetyltransferases