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Current research focuses primarily on infantile neuronal ceroid lipofuscinosis (INCL) and juvenile NCL (JNCL), both devastating neurodegenerative storage diseases caused by mutations in the CLN1 and CLN3 genes, respectively, cause INCL and JNCL. The CLN1 gene encodes palmitoyl-protein thioesterase-1 (PPT1) and the CLN3 gene encodes a protein of 438 amino acids also called batenin. The biological function of this protein remains unclear. The laboratory research of Dr. Mukherjee and his colleagues uncovered that PPT1-deficiency leads endoplasmic reticulum and oxidative stress, which triggers unfolded protein response mediating neuronal death by apoptosis. A few years ago, researchers in this section screened many small molecules that functionally mimic PPT1. Based on results of their laboratory investigations, the Section was awarded the first NICHD “bench-to-bedside award” to conduct a clinical trial to determine if a combined regimen of Cystagon™ (cysteamine bitartrate) and Mucomyst® (N-acetylcysteine) is beneficial for patients with INCL. This study has recently been completed and the results published in Lancet Neurology. More recently, efforts to identify and characterize non-toxic small molecules, which mimic PPT1 activity, led to the discovery of N-tert (Butyl) hydroxylamine (NtBuHA), which protects neurons and extend the lifespan of Cln1-/- mice, a reliable animal model of INCL. Since many INCL patients in the US carry non-sense mutations in the CLN1 gene and increasingly, nonsense-suppressing small molecules are being developed, Mukherjee lab sought to develop an animal model for in vivo testing of these compounds. They have generated a mouse model carrying the most common PPT1 nonsense mutation found in the INCL patients in this country.
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Maria B. Bagh, Abhilash P. Appu, Tamal Sadhukhan, Avisek Mondal, Nisha Plavelil, Mahadevan Raghavankutty, Ajayan M. Supran,Sriparna Sadhukhan,Aiyi Liu,Anil B. Mukherjee
The Journal of biological chemistryno. 2 (2024): 105641-105641
Journal of Biological Chemistryno. 3 (2023): 103816-S433
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Journal of Biological Chemistryno. 3 (2023): 103804-S426
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