Section on Cellular Differentiation

Head: Janice J. Chou

Section on Cellular Differentiation studies glycogen storage disease type I (GSD-I), caused by deficiencies in the glucose-6-phosphatase-alpha (G6Pase-alpha)-glucose-6-phosphate transporter (G6PT) complex.  Deficiencies in G6Pase-alpha cause GSD-Ia while deficiencies in G6PT cause GSD-Ib.  Both manifest symptoms of disturbed glucose homeostasis; GSD-Ib also presents with myeloid dysfunctions. Chou showed that an increase in cellular cholesterol efflux and antioxidant capacity in the sera of GSD-Ia patients may protect against premature atherosclerosis.  Using G6PT–/– mice, her group showed that myeloid dysfunctions in GSD-Ib are intrinsically linked to G6PT deficiency in the bone marrow and neutrophils, and that an adenoviral vector–mediated gene transfer improved metabolic and myeloid functions.

Resources

• Employee Listing
• E-Mail the Lab: chou@helix.nih.gov