Human cathepsin L rescues the neurodegeneration and lethality in cathepsin B/L double-deficient mice

L Sevenich, LA Pennacchio, C Peters, T Reinheckel - 2006 - degruyter.com
L Sevenich, LA Pennacchio, C Peters, T Reinheckel
2006degruyter.com
Cathepsin B (CTSB) and cathepsin L (CTSL) are two widely expressed cysteine proteases
thought to predominantly reside within lysosomes. Functional analysis of CTSL in humans is
complicated by the existence of two CTSL-like homologs (CTSL and CTSL2), in contrast to
mice, which possess only one CTSL enzyme. Thus, transgenic expression of human CTSL
in CTSL-deficient mice provides an opportunity to study the in vivo functions of this human
protease without interference by its highly related homolog. While mice with single-gene …
Abstract
Cathepsin B (CTSB) and cathepsin L (CTSL) are two widely expressed cysteine proteases thought to predominantly reside within lysosomes. Functional analysis of CTSL in humans is complicated by the existence of two CTSL-like homologs (CTSL and CTSL2), in contrast to mice, which possess only one CTSL enzyme. Thus, transgenic expression of human CTSL in CTSL-deficient mice provides an opportunity to study the in vivo functions of this human protease without interference by its highly related homolog. While mice with single-gene deficiencies for murine CTSB or CTSL survive without apparent neuromuscular impairment, murine CTSB/CTSL double-deficient mice display degeneration of cerebellar Purkinje cells and neurons of the cerebral cortex, resulting in severe hypotrophy, motility defects, and lethality during their third to fourth week of life. Here we show that expression of human CTSL through a genomic transgene results in widespread expression of human CTSL in the mouse that is capable of rescuing the lethality found in CTSB/CTSL double-deficient animals. Human CTSL is expressed in the brain of these compound mutants, predominantly in neurons of the cerebral cortex and in Purkinje cells of the cerebellum, where it appears to prevent neuronal cell death.
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