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ラミノパシー

出典: フリー百科事典『ウィキペディア（Wikipedia）』 (2021/09/08 16:18 UTC 版)

ラミノパシー（英: Laminopathy^[2]）、ラミノパチー、またはラミン病（ラミンびょう）は、核ラミナのタンパク質をコードする遺伝子の変異によって引き起こされる一群の希少遺伝疾患であり、「核膜病」（nuclear envelopathies）の中に含まれる。「核膜病」は核膜の欠陥に関連する疾患を分類するために2000年に造られた包括的用語である^[3]。1990年代後半にラミノパシーが最初に報告されて以降、核膜タンパク質が動物細胞や組織の完全性の維持に果たしている重要な役割を解明するため、多くの研究努力がなされている。

出典

^ “Dermal fibroblasts in Hutchinson–Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress”. BMC Cell Biol. 6: 27. (2005). doi:10.1186/1471-2121-6-27. PMC 1183198. PMID 15982412.
^ lamino- + -opathy.
^ “Nuclear envelope proteins and associated diseases”. Curr. Opin. Neurol. 13 (5): 533–9. (2000). doi:10.1097/00019052-200010000-00005. PMID 11073359.
^ ^a ^b “Lamin B1 is required for mouse development and nuclear integrity”. Proc. Natl. Acad. Sci. U.S.A. 101 (28): 10428–33. (2004). Bibcode: 2004PNAS..10110428V. doi:10.1073/pnas.0401424101. PMC 478588. PMID 15232008.
^ “Comparative genomics, evolution and origins of the nuclear envelope and nuclear pore complex”. Cell Cycle 3 (12): 1612–37. (2004). doi:10.4161/cc.3.12.1316. PMID 15611647.
^ “Role of nuclear lamina-cytoskeleton interactions in the maintenance of cellular strength”. Biochim. Biophys. Acta 1773 (5): 675–86. (May 2007). doi:10.1016/j.bbamcr.2006.09.018. PMID 17050008.
^ ^a ^b “Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy”. Am. J. Hum. Genet. 79 (2): 383–9. (2006). doi:10.1086/505885. PMC 1559499. PMID 16826530.
^ ^a ^b “Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C”. Am. J. Hum. Genet. 71 (2): 426–31. (2002). doi:10.1086/341908. PMC 379176. PMID 12075506.
^ “Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.”. Am J Med Genet A 146A (8): 1049–1054. (2008). doi:10.1002/ajmg.a.32259. PMID 18348272.
^ “A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.”. Eur J Hum Genet 20 (11): 1134–40. (2012). doi:10.1038/ejhg.2012.77. PMC 3476705. PMID 22549407.
^ ^a ^b ^c “Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome”. Nature 423 (6937): 293–8. (2003). Bibcode: 2003Natur.423..293E. doi:10.1038/nature01629. PMID 12714972.
^ ^a ^b “Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identity restrictive dermopathy as a lethal neonatal laminopathy”. Hum. Mol. Genet. 13 (20): 2493–2503. (2004). doi:10.1093/hmg/ddh265. PMID 15317753.
^ ^a ^b ^c ^d “Lamin B1 duplications cause autosomal dominant leukodystrophy”. Nature Genetics 38 (10): 1114–1123. (2006). doi:10.1038/ng1872. PMID 16951681.
^ “A dual role for A-type lamins in DNA double-strand break repair”. Cell Cycle 10 (15): 2549–60. (2011). doi:10.4161/cc.10.15.16531. PMC 3180193. PMID 21701264.
^ “Genomic instability in laminopathy-based premature aging”. Nat. Med. 11 (7): 780–5. (2005). doi:10.1038/nm1266. PMID 15980864.
^ “LMNA mutations in atypical Werner's syndrome”. Lancet 362 (9382): 440–5. (2003). doi:10.1016/S0140-6736(03)14069-X. PMID 12927431.
^ “Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke–Ollendorff syndrome and melorheostosis”. Nature Genetics 36 (11): 1213–8. (2004). doi:10.1038/ng1453. PMID 15489854.
^ “Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease”. N. Engl. J. Med. 341 (23): 1715–24. (1999). doi:10.1056/NEJM199912023412302. PMID 10580070.
^ “Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype”. Hum. Mutat. 21 (5): 473–81. (2003). doi:10.1002/humu.10170. PMID 12673789.
^ “Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot–Marie–Tooth disorder type 2) and mouse”. Am. J. Hum. Genet. 70 (3): 726–36. (2002). doi:10.1086/339274. PMC 384949. PMID 11799477.
^ “The Emery–Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein.”. Hum. Mol. Genet. 5 (6): 801–8. (1996). doi:10.1093/hmg/5.6.801. PMID 8776595.
^ “Direct interaction between emerin and lamin A”. Biochem. Biophys. Res. Commun. 267 (3): 709–14. (2000). doi:10.1006/bbrc.1999.2023. PMID 10673356.
^ “Mutations in the gene encoding lamin A/C cause autosomal dominant Emery–Dreifuss muscular dystrophy”. Nature Genetics 21 (3): 285–8. (1999). doi:10.1038/6799. PMID 10080180.
^ “Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery–Dreifuss muscular dystrophy”. Am. J. Hum. Genet. 66 (4): 1407–12. (2000). doi:10.1086/302869. PMC 1288205. PMID 10739764.
^ “Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy”. Hum. Mol. Genet. 9 (1): 109–12. (2002). doi:10.1093/hmg/9.1.109. PMID 10587585.
^ “Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3-beta-hydroxysterol delta(14)-reductase deficiency due to mutations in the lamin B receptor gene”. Am. J. Hum. Genet. 72 (4): 1013–17. (2003). doi:10.1086/373938. PMC 1180330. PMID 12618959.
^ “Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)”. Hum. Mol. Genet. 9 (9): 1453–9. (2000). doi:10.1093/hmg/9.9.1453. PMID 10814726.
^ “A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy”. J. Clin. Endocrinol. Metab. 88 (3): 1006–13. (2003). doi:10.1210/jc.2002-021506. PMID 12629077.
^ “Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia”. Hum. Mol. Genet. 12 (16): 1995–2001. (2003). doi:10.1093/hmg/ddg213. PMID 12913070.
^ “Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly)”. Nature Genetics 31 (4): 410–4. (2002). doi:10.1038/ng925. PMID 12118250.
^ Captur, Gabriella; Arbustini, Eloisa; Bonne, Gisèle; Syrris, Petros; Mills, Kevin; Wahbi, Karim; Mohiddin, Saidi A.; McKenna, William J. et al. (2017-11-25). “Lamin and the heart”. Heart 104 (6): 468–479. doi:10.1136/heartjnl-2017-312338. ISSN 1468-201X. PMID 29175975.
^ “Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors”. J. Cell Sci. 119 (Pt 16): 3265–72. (2006). doi:10.1242/jcs.03156. PMID 16899817.
^ “Protein farnesyltransferase inhibitors and progeria”. Trends Mol. Med. 12 (10): 480–7. (2006). doi:10.1016/j.molmed.2006.08.006. PMID 16942914.

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