Outlook for future treatment.
Currently, no treatment is available for neuronal ceroid lipofuscinoses. The progress of human genome project will stimulate molecular cloning of unidentified genes underlying the NCLs, which will lead eventually clinical management and therapies for NCL. Characterizing the native substrate(s) for the palmitoyl-protein thioesterase-1 (PPT1) and tripeptidyl peptidase 1 (TPP1), understanding the protein functions encoded by CLN genes, and uncovering the pathological metabolic mechanism for the NCLs are the bases of designing rational treatments for the NCLs. Testing potential therapeutic agents, replacing deficient enzymes, and developing gene therapy will be the major tasks for NCL researchers.
Zhong
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Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314, USA. omrddzhong@AOL.com
Wisniewski
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KE
D002986:Clinical Trials as Topic; D003001:Cloning, Molecular; D015316:Genetic Therapy; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics / Q000378:metabolism / Q000628:therapy*; D000091346:Tripeptidyl-Peptidase 1
D008565:Membrane Proteins; D000091346:Tripeptidyl-Peptidase 1; C000717267:TPP1 protein, human