
TY  - JOUR
A1  - Juneja, Subhash C. 
T1  - Development of infertility at young adult age in a mouse model of human Sandhoff disease
JF  - Reproduction, Fertility and Development
JO  - Reprod. Fertil. Dev.
Y1  - 2002
VL  - 14
IS  - 7
SP  - 407
EP  - 412
KW  - &#946;-hexosaminidase, Hexb&#8211;/&#8211; mice.
UR  - https://doi.org/10.1071/RD02060 
N2  - Sandhoff disease is a human lysosomal storage disease. In a knockout mouse model of Sandhoff disease, which lacks the &#946;-subunit of &#946;-hexosaminidase A (Hex A, &#945;&#946; subunits) and B (Hex B, &#946;&#946; subunits), the mutant homozygous mice (Hexb&#8211;/&#8211;) are healthy until 15 weeks of age when they develop neurodegenerative symptoms. This study was designed to analyse the fertility profile of male and female Hexb&#8211;/&#8211; mice. Mating behaviour of Hexb&#8211;/&#8211; mice was assessed at different ages. The ovarian function of Hexb&#8211;/&#8211; females was determined by superovulation studies. The quality of spermatozoa and ova was assessed by an in vitro fertilization (IVF) procedure. Hexb&#8211;/&#8211; mice were fertile at a young age. Males were fertile up to the age of 69.3 &#177; 6.3 days (mean &#177; SD) and females were fertile up to the age of 56&#8211;63 days. Since both the Hexb&#8211;/&#8211; sexes showed fertility, the results indicate that Hex A and Hex B (major isozymes of &#946;-hexosaminidase) may not be required for sperm&#8211;ovum interactions, in contrast to the widely accepted belief. On the other hand, young adult Hexb&#8211;/&#8211; males showed a reduction in mating behaviour at the age of 84.8 &#177; 2.2 days and an absence of mating behaviour at 94.2 &#177; 2.0 days. Spermatozoa from Hexb&#8211;/&#8211; mice (aged 109.2 &#177; 1.8 days) showed a lower IVF rate. Among Hexb&#8211;/&#8211; females aged 85.6 &#177; 2.1 days, no mice became pregnant although they were positive for a vaginal plug when caged with fertile males. The number of ova recovered from Hexb&#8211;/&#8211; females (aged 111.0 &#177; 3.1 days) and the IVF rate of ova were lower than those of controls. In conclusion, Hex A and Hex B may not be required for sperm&#8211;ovum interactions. Mice lacking Hex A and Hex B activities develop infertility at a young adult age in an age-dependent manner. 
ER  -

