Fibroblast growth factor 14 is a biologically active protein that in humans is encoded by the FGF14 gene.[5][6][7]
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. A mutation in this gene is associated with autosomal dominant cerebellar ataxia. Alternatively spliced transcript variants have been found for this gene.[7]
FGF14 is mainly expressed in the central nervous system and is associated with neurodegenerative diseases such as spinocerebellar ataxia (SCA27). FGF14 deficiency also impairs the maturation of cells in the hippocampus, which is possibly related to the development of schizophrenia.[8]
Relationship with Alzheimer’s disease
FGF14 levels are elevated in patients with Alzheimer’s disease. FGF14 messenger RNA was also found to be upregulated in Alzheimer’s patients, which suggests that it is involved in the pathogenesis of the disease, although the underlying mechanism is still unknown. Research is ongoing as to whether or not FGF14 could be used as a therapy against Alzheimer’s disease as well as other neurodegenerative diseases, by promote neural proliferation and regulating the plasticity of the synapses.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000102466 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025551 – Ensembl, May 2017
- ^ “Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ “Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Smallwood PM, Munoz-Sanjuan I, Tong P, Macke JP, Hendry SH, Gilbert DJ, et al. (October 1996). “Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development”. Proceedings of the National Academy of Sciences of the United States of America. 93 (18): 9850–9857. Bibcode:1996PNAS…93.9850S. doi:10.1073/pnas.93.18.9850. PMC 38518. PMID 8790420.
- ^ Wozniak DF, Xiao M, Xu L, Yamada KA, Ornitz DM (March 2007). “Impaired spatial learning and defective theta burst induced LTP in mice lacking fibroblast growth factor 14”. Neurobiology of Disease. 26 (1): 14–26. doi:10.1016/j.nbd.2006.11.014. PMC 2267915. PMID 17236779.
- ^ a b “Entrez Gene: FGF14 fibroblast growth factor 14”.
- ^ Wang L, Jing R, Wang X, Wang B, Guo K, Zhao J, et al. (June 2021) [11 June 2021]. “A method for the expression of fibroblast growth factor 14 and assessment of its neuroprotective effect in an Alzheimer’s disease model”. Annals of Translational Medicine. 9 (12): 994. doi:10.21037/atm-21-2492. PMC 8267273. PMID 34277794.
Further reading
- Wang Q, Bardgett ME, Wong M, Wozniak DF, Lou J, McNeil BD, et al. (July 2002). “Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14”. Neuron. 35 (1): 25–38. doi:10.1016/S0896-6273(02)00744-4. PMID 12123606.
- van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, de Koning I, et al. (January 2003). “A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]”. American Journal of Human Genetics. 72 (1): 191–199. doi:10.1086/345488. PMC 378625. PMID 12489043.
- Popovici C, Conchonaud F, Birnbaum D, Roubin R (2004). “Functional phylogeny relates LET-756 to fibroblast growth factor 9”. The Journal of Biological Chemistry. 279 (38): 40146–40152. doi:10.1074/jbc.M405795200. PMID 15199049.
- Stevanin G, Durr A, Dussert C, Penet C, Brice A (September 2004). “Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians”. Neurology. 63 (5): 936. doi:10.1212/01.wnl.0000137020.30604.1e. PMID 15365159. S2CID 35093587.
- Dalski A, Atici J, Kreuz FR, Hellenbroich Y, Schwinger E, Zühlke C (January 2005). “Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias”. European Journal of Human Genetics. 13 (1): 118–120. doi:10.1038/sj.ejhg.5201286. PMID 15470364.
- Lou JY, Laezza F, Gerber BR, Xiao M, Yamada KA, Hartmann H, et al. (November 2005). “Fibroblast growth factor 14 is an intracellular modulator of voltage-gated sodium channels”. The Journal of Physiology. 569 (Pt 1): 179–193. doi:10.1113/jphysiol.2005.097220. PMC 1464207. PMID 16166153.
- Brusse E, de Koning I, Maat-Kievit A, Oostra BA, Heutink P, van Swieten JC (March 2006). “Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype”. Movement Disorders. 21 (3): 396–401. doi:10.1002/mds.20708. PMID 16211615. S2CID 25438944.
- Zhao Y, Lim SW, Tan EK (2007). “Genetic analysis of SCA 27 in ataxia and childhood onset postural tremor”. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 144 (3): 395–396. doi:10.1002/ajmg.b.30472. PMID 17221845. S2CID 41536996.