In Fabry disease, deficient activity of the enzyme, alpha-galactosidase A, results in the deposits of
sphingolipid degradation Gb3 in lysosomes of various organs including the cornea [2, 5].
Specifically, after a lateral hemisection of the adult rat spinal cord, transient disruption of mature myelin by intraspinal fusion of serum complement proteins and a myelin-specific antibody (anti-galactocerebroside, the major
sphingolipid in myelin) was shown to facilitate axonal regeneration of rubrospinal axons into the caudal lumbar spinal cord [98].
Igarashi, "Sphingosine-1-phosphate: a platelet-activating
sphingolipid released from agonist-stimulated human platelets," Blood, vol.
Increasing evidence suggests that mitochondria are important intracellular compartments for
sphingolipid metabolism, including sphingomyelin and ceramide [48].
Tettamanti, "[51] Estimating
sphingolipid metabolism and trafficking in cultured cells using radiolabeled compounds," Methods in Enzymology, vol.
Ceramide is a metabolite in
sphingolipid pathway of the cells that has an ability to promote cell death in tumor cells when produced endogenously in the cells or applied exogenously.
Among the genes involved in
sphingolipid synthesis, SPTLC1 appeared to be overexpressed (>3-fold) whereas the expression of SGPL1 appeared to be downregulated at about 1/20th of cutaneous expression.
Symolon et al., "Ceramides and other bioactive
sphingolipid backbones in health and disease: lipidomic analysis, metabolism and roles in membrane structure, dynamics, signaling and autophagy," Biochimica et Biophysica Acta-Biomembranes, vol.
Booth, "Vitamin K and
sphingolipid metabolism: Evidence to date," Nutrition Reviews, vol.
Ceramides (Cer) belongs to the
sphingolipid family and are formed by a sphingosine and a fatty acid group linked by an amide bond.