Disorders of Glycosphingolipid and GPI-Anchor Glycosylation

CD BioGlyco has developed a range of powerful state-of-the-art technology platforms, including Glyco™ Synthesis Platform, Glycoproteomics Platform, Glycobiology Microarray Platform, Glycoengineering Platform, and Glycosylation Site-specific Antibody-Drug Conjugate (ADC) Development Platform. These platforms of CD BioGlyco provide clients with an assurance of disorders of glycosphingolipid and GPI-anchor glycosylation-related studies

Background of Congenital Disorders of Glycosylation

Glycosylation affects many different genes, which encode many different proteins, such as enzymes. Deficiencies of these enzymes can cause a variety of adverse symptoms that may affect multiple tissues and organs in the body.

CDGs are a group of monogenic human disorders consisting of more than 130 rare inherited metabolic disorders. These diseases result from defects in the complex glycosylation process. Glycosylation refers to the complex chemical process by which sugars bind or attach to proteins (to form glycoproteins) or lipids (to form glycolipids). The biochemical assembly process of glycosylation involves multistep, dynamic, and regulated synthetic pathways. Glycoproteins and glycolipids have many important functions in all tissues and organs of the human body.

Schematic representation of glycoproteins, glycosphingolipids, and glycosylphosphatidylinositol (GPI) anchored membrane protein.Fig.1 Schematic representation of glycoproteins, glycosphingolipids, and glycosylphosphatidylinositol (GPI) anchored membrane protein. (Semak, et al., 2017)

Disorder Pathways

There are mainly three known CDGs involved in lipid glycosylation. Mutations in ST3GAL5 cause an autosomal recessive "salt and pepper syndrome". This gene encodes the sialyltransferase required for the synthesis of ganglioside GM3 (Siaα2-3Galβ1-4Glc-ceramide) from lactoseceramide (Galβ1-4Glc-ceramide). GM3 is the precursor of some complex gangliosides. Mutations in B4GALNT1 (also known as GM2/GD2 synthase) cause hereditary spastic paraplegia subtype 26. Due to axonal degeneration, these patients have developmental delays and various cognitive impairments with early-onset progressive spasticity. A4GALT is involved in the synthesis of hemoglobin, the most abundant glycosphingolipid (GSL) in red blood cells. These disorders are inherited in an autosomal recessive manner, in which individuals receive a defective allele from their parents.

Because more than 150 membrane proteins require GPI anchors for cell surface expression. Substate mutations in multiple genes in this pathway result in partial reductions in GPI-anchored proteins. The GPI anchor component includes PIGA, PIGH, PIGQ, PIGY, PIGC, PIGP, PIGL, PIGW, PIGM, PIGV, PIGB, PIGF, and PIGO. Deficiencies in side chain modifications (PIGN and PIGG) and maturation of GPI glycans after attachment to proteins (PGAP1, PGAP2, and PGAP3) can also lead to inherited GPI deficiencies. GPI deficiency has many adverse consequences, including neurological and non-neurological symptoms, such as mental retardation, deformities, and abnormal facial features.

Advantages of Us

  • Extensive experience in the field of glycoscience
  • A professional research team
  • Rigorous and responsible attitude toward all research projects
  • Comprehensive understanding of disorders of glycosphingolipid and GPI-anchor glycosylation

Carbohydrate & Disease is an important topic in the field of glycoscience. CD BioGlyco is willing to be the partner of customers in this field. For further details, please don't hesitate to contact us.

Reference:

  1. Semak, V.; et al. Biomimetic principles to develop blood compatible surfaces. The International Journal of Artificial Organs. 2017, 40(1): 22-30.
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