Section on Developmental Genetics

Head: Anil B. Mukherjee

Our group conducts both laboratory and clinical investigations to understand the molecular mechanism(s) of heritable childhood neurodegenerative diseases and inflammatory/autoimmune disorders. Investigations focus primarily on two genes: palmitoyl-protein thioesterase-1, the mutation of which causes infantile Batten disease (IBD), and uteroglobin (UG), an anti-inflammatory protein. UG-knockout (UG-KO) mice develop IgA-nephropathy, allergic airway inflammation, and tumor susceptibility. During the past year, this group has shown that: (i) in PPT1-KO mice, a model for IBD, microglial recruitment and activation are mediated by increased cPLA2-catalyzed production of lysophosphatidylcholine in the brain, (ii) ER-and oxidative stresses are common manifestations of both neurodegenerative and non-neurodegenerative storage disorders, and (iii) mice lacking UG are highly susceptible to developing pulmonary fibrosis. The laboratory is also continuing a bench-to-bedside clinical trial to determine if a combined regimen of Cystagon™ and N-acetylcysteine (Mucomyst®) is beneficial for patients with infantile Batten disease. 

Resources

• Employee Listing
• E-Mail the Lab: mukherja@cc1.nichd.nih.gov