Biology:CLN5
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Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene.[1][2][3]
The neuronal ceroid lipofuscinoses (CLN or NCL) are a group of autosomal recessive, progressive encephalopathies in children. They are characterized by psychomotor deterioration, visual failure, and the accumulation of autofluorescent lipopigment in neurons and other cell types. The main childhood forms are the infantile type (Santavuori-Haltia disease; MIM 256730), the late infantile type (Jansky–Bielschowsky disease; MIM 204500), and the juvenile type (Batten disease; MIM 204200) based on the age of onset, clinical course, neurologic and ophthalmologic findings, and ultrastructural analysis (Carpenter et al., 1977 [PubMed 193610]).[supplied by OMIM][3]
A human clinical trial of gene therapy for the CLN5 form of Batten disease began in 2022 through the University of Rochester, using vectors developed by the Hughes research lab in New Zealand.[4]
References
- ↑ "Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses". Am J Hum Genet 55 (4): 695–701. Oct 1994. PMID 7942847.
- ↑ "Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22". Genomics 35 (1): 71–8. Sep 1996. doi:10.1006/geno.1996.0324. PMID 8661106.
- ↑ 3.0 3.1 "Entrez Gene: CLN5 ceroid-lipofuscinosis, neuronal 5". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=1203.
- ↑ Biochemistry, Department of (2022-08-02). "Trial of world-first gene therapy for Batten disease" (in en). https://www.otago.ac.nz/news/newsroom/trial-of-world-first-gene-therapy-for-batten-disease.
Further reading
- "Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5". Hum. Mutat. 14 (3): 199–215. 1999. doi:10.1002/(SICI)1098-1004(1999)14:3<199::AID-HUMU3>3.0.CO;2-A. PMID 10477428.
- "Batten's disease: clues to neuronal protein catabolism in lysosomes". J. Neurosci. Res. 60 (2): 133–40. 2000. doi:10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3. PMID 10740217.
- "Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins". Curr. Mol. Med. 2 (5): 439–44. 2003. doi:10.2174/1566524023362311. PMID 12125809.
- Mole SE (2004). "The genetic spectrum of human neuronal ceroid-lipofuscinoses". Brain Pathol. 14 (1): 70–6. doi:10.1111/j.1750-3639.2004.tb00500.x. PMID 14997939.
- "The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease". Brain 100 Pt 1: 137–56. 1977. doi:10.1093/brain/100.1.137. PMID 193610.
- "CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis". Nat. Genet. 19 (3): 286–8. 1998. doi:10.1038/975. PMID 9662406.
- "CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain". J. Comp. Neurol. 426 (3): 406–12. 2000. doi:10.1002/1096-9861(20001023)426:3<406::AID-CNE5>3.0.CO;2-5. PMID 10992246.
- "Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)". Eur. J. Biochem. 268 (22): 5851–6. 2001. doi:10.1046/j.0014-2956.2001.02530.x. PMID 11722572.
- "Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein". Hum. Mol. Genet. 11 (8): 885–91. 2003. doi:10.1093/hmg/11.8.885. PMID 11971870.
- "Neuronal Ceroid Lipofuscinoses Are Connected at Molecular Level: Interaction of CLN5 Protein with CLN2 and CLN3". Mol. Biol. Cell 13 (7): 2410–20. 2003. doi:10.1091/mbc.E02-01-0031. PMID 12134079.
- "A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset". Neurology 64 (4): 740–2. 2005. doi:10.1212/01.WNL.0000151974.44980.F1. PMID 15728307.
- "Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency". Mol. Genet. Metab. 89 (3): 245–53. 2006. doi:10.1016/j.ymgme.2006.04.010. PMID 16814585.
- "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. 2007. doi:10.1038/msb4100134. PMID 17353931.
- "Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis". Neuropediatrics 38 (1): 46–9. 2007. doi:10.1055/s-2007-981449. PMID 17607606.
External links
- GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses
- Human CLN5 genome location and CLN5 gene details page in the UCSC Genome Browser.
- Human NCL genome location and NCL gene details page in the UCSC Genome Browser.
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