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PMID 17886267
Gene Name LIPE
Condition Shows a dramatic reduction in sperm counts and motility and are infertile
Association Associated
Sex Male
Infertility type Male infertility
Other associated phenotypes Shows a dramatic reduction in sperm counts and motility and are infertile


Alterations in the testis of hormone sensitive lipase-deficient mice is associated with decreased sperm counts, sperm motility, and fertility

Hermo L, Chung S, Gregory M, Smith CE, Wang SP, El-Alfy M, Cyr DG, Mitchell GA, Trasler J.

Hormone-sensitive lipase (HSL, Lipe, E.C.3.1.1.3) functions as a triglyceride and cholesteryl esterase, supplying fatty acids, and cholesterol to cells. Gene-targeted HSL-deficient (HSL(-/-)) mice reveal abnormal spermatids and are infertile at 24 weeks after birth. The purpose of this study was to follow the evolution of spermatid abnormalities as HSL(-/-) mice age, characterize sperm motility in older HSL(-/-) mice, and determine if mice expressing a human testicular HSL transgene (HSL(-/-)ttg) produce normal motile sperm. In situ hybridization indicated that HSL is expressed exclusively in steps 5-16 spermatids, but not in Sertoli cells. In HSL(-/-) mice, abnormalities were evident in step 16 spermatids at 5 weeks after birth, with defects progressively increasing in spermatids with age. The defects included multinucleation of spermatids, abnormal shapes and a reduction of elongating spermatids. In older HSL(-/-) mice, sperm counts appeared reduced by 42%, but this value was lower because samples were compromised by the presence of small degenerating germ cells in addition to sperm, both of which appeared of similar size and density. Sperm motility was dramatically reduced with only 11% classified as motile in HSL(-/-) mice compared to 76-78% of sperm in wild-type and HSL(-/-)ttg mice. Sperm morphology, counts, and motility were normal in HSL(-/-)ttg mice, as was their fertility. Collectively, the data indicate that HSL deficiency results in abnormal spermatid development with defects arising at 5 weeks of age and progressively increasing at later ages. HSL(-/-) mice also show a dramatic reduction in sperm counts and motility and are infertile. CI - Copyright 2007 Wiley-Liss, Inc. FAU - Hermo, Louis AU - Hermo L AD - Department of Anatomy and Cell Biology, McGill University, Montréal, Québec, Canada. louis.hermo@mcgill.ca FAU - Chung, Shari AU - Chung S FAU - Gregory, Mary AU - Gregory M FAU - Smith, Charles E AU - Smith CE FAU - Wang, Shu Pei AU - Wang SP FAU - El-Alfy, Mohamed AU - El-Alfy M FAU - Cyr, Daniel G AU - Cyr DG FAU - Mitchell, Grant A AU - Mitchell GA