Does cLC-3 deficiency lead to phenotypes similar to human neuronal ceroid lipofuscinosis?
These results indicated that the neurodegeneration observed in the Clcn3-/- mice was caused by an abnormality in the machinery which degrades the cellular protein and was associated with the phenotype of neuronal ceroid lipofuscinosis (NCL). The elevated endosomal pH could be an important factor in the pathogenesis of NCL.
Total GSH levels are similar in infants with NEC and controls. It is possible that a relative rather than absolute deficiency of antioxidant compounds exists and may contribute to the development of NEC.