The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases

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• 作者：Elena Sinkiewicz-Darol (1)
  Andressa Ferreira Lacerda (2)
  Anna Kostera-Pruszczyk (3)
  Anna Potulska-Chromik (3)
  Beata Soko艂owska (1) (4)
  Dagmara Kabzi艅ska (1)
  Craig R. Brunetti (2)
  Irena Hausmanowa-Petrusewicz (1)
  Andrzej Kocha艅ski (1)
  
• 关键词：LITAF ; Charcot ; Marie ; Tooth disease type 1A ; Gene dosage ; Biomarkers
• 刊名：neurogenetics
• 出版年：2015
• 出版时间：January 2015
• 年：2015
• 卷：16
• 期：1
• 页码：27-32
• 全文大小：1,294 KB
• 参考文献：1. Aarskog NK, Vedeler CA (2000) Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet 5:494鈥?98 CrossRef
  2. Burgess A, Vigneron S, Brioudes E, Labb茅 J-C, Lorca T, Castro A (2010) Loss of human Greatwall results in G2 arrest and multiple mitotic defects due to deregulation of the cyclin B-Cdc2/PP2A balance. Proc Natl Acad Sci U S A 107:12564鈥?2569 CrossRef
  3. Chance PF, Pleasure D (1993) Charcot-Marie-tooth syndrome. Arch Neurol-Chic 50(11):1180鈥?184 CrossRef
  4. Garcia CA, Malamut RE, England JD, Parry GS, Liu P, Lupski JR (1995) Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication. Neurology 45(11):2090鈥?093 CrossRef
  5. Kabzi艅ska D, Piersci艅ska J, Kochanski A (2009) Screening of the 17p11.2-p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP). J Appl Genet 3:283鈥?88 CrossRef
  6. Keckarevic-Markovic M, Milic-Rasic V, Mladenovic J, Dackovic J, Kecmanovic M, Keckarevic D, Savic-Pavicevic D, Romac S (2009) Mutational analysis of GJB1, MPZ, PMP22, EGR2 and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients. J Peripher Nerv Syst 14(2):125鈥?36 CrossRef
  7. Lacerda AF, Hartjes E, Brunetti CR (2014) LITAF mutations associated with Charcot-Marie-tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria. PLoS ONE 9(7):e103454 CrossRef
  8. Latour P, Gonnaud PM, Ollagnon E, Chan V, Perelman S, Stojkovic T, Stoll C, Vial C, Ziegler F, Vandenberghe A, Maire I (2006) SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations. J Peripher Nerv Syst 11(2):148鈥?55 CrossRef
  9. Lee SM, Chin LS, Li L (2012) Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking. J Cell Biol.; 26;199(5):799鈥?16
  10. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V et al (1991) DNA duplication associated with Charcot-Marie-tooth disease type-1a. Cell 66(2):219鈥?32 CrossRef
  11. Lupski JR (1999) Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity. Pediatr Res 45(2):159鈥?65 CrossRef
  12. Meggouh F, de Visser M, Arts WF, De Coo RI, van Schaik IN, Baas F (2005) Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease. Ann Neurol 4:589鈥?91 CrossRef
  13. Potulska-Chromik A, Sinkiewicz-Darol E, Ryniewicz B, Lipowska M, Kabzi艅ska D, Kocha艅ski A, Kostera-Pruszczyk A (2014) Clinical, electrophysiological and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. Muscle Nerve. doi:10.1002/mus.24250 [Epub ahead of print]
  14. Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA et al (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1(2):93鈥?7 CrossRef
  15. Reilly MM, Murphy SM, Laur谩 M (2011) Charcot-Marie-Tooth disease. J Peripher Nerv Syst 16(1):1鈥?4 CrossRef
  16. Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR (2005) SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat 25(4):372鈥?83 CrossRef
  17. Scelsa SN (2010) Familial, demyelinating sensory and motor polyneuropathy with conduction block. Muscle Nerve 4:558鈥?62 CrossRef
  18. Schenone A, Nobbio L, Caponnetto C, Abbruzzese M, Mandich P, Bellone E, Ajmar F, Gherardi G, Windebank AJ, Mancardi G (1997) Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies. Ann Neurol 42(6):866鈥?72 CrossRef
  19. Sereda MW, Horste GMZ, Suter U, Uzma N, Nave KA (2003) Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med 9(12):1533鈥?537 CrossRef
  20. Sinkiewicz-Darol E, Kabzinska D, Moszynska I, Kochanski A (2010) The 5鈥?regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease. Acta Biochim Pol 57(3):373鈥?77
  21. Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, Lipe HP, Scherer SS, Bird TD, Chance PF (2003) Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology 60(1):22鈥?6 CrossRef
  22. Suter U, Nave KA (1999) Transgenic mouse models of CMT1A and HNPP. Ann Ny Acad Sci 883:247鈥?53 CrossRef
  23. Zhu H, Guariglia S, Yu RY, Li W, Brancho D, Peinado H, Lyden D, Salzer J, Bennett C, Chow CW (2013) Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes. Mol Biol Cell 24:1619鈥?637 CrossRef
  
• 作者单位：Elena Sinkiewicz-Darol (1)
  Andressa Ferreira Lacerda (2)
  Anna Kostera-Pruszczyk (3)
  Anna Potulska-Chromik (3)
  Beata Soko艂owska (1) (4)
  Dagmara Kabzi艅ska (1)
  Craig R. Brunetti (2)
  Irena Hausmanowa-Petrusewicz (1)
  Andrzej Kocha艅ski (1)
  
  1. Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02-106, Warsaw, Poland
  2. Biology Department, Trent University, Peterborough, ON, K9H 7B8, Canada
  3. Department of Neurology, Medical University of Warsaw, Warsaw, Poland
  4. Bioinformatics Laboratory, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Neurosciences
  Human Genetics
  Molecular Medicine
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1364-6753

文摘

Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) represent the most common heritable neuromuscular disorders. Molecular diagnostics of CMT1A/HNPP diseases confirm clinical diagnosis, but their value is limited to the clinical course and prognosis. However, no biomarkers of CMT1A/HNPP have been identified. We decided to explore if the LITAF/SIMPLE gene shared a functional link to the PMP22 gene, whose duplication or deletion results in CMT1A and HNPP, respectively. By studying a large cohort of CMT1A/HNPP-affected patients, we found that the LITAF I92V sequence variant predisposes patients to an earlier age of onset of both the CMT1A and HNPP diseases. Using cell transfection experiments, we showed that the LITAF I92V sequence variant partially mislocalizes to the mitochondria in contrast to wild-type LITAF which localizes to the late endosome/lysosomes and is associated with a tendency for PMP22 to accumulate in the cells. Overall, this study shows that the I92V LITAF sequence variant would be a good candidate for a biomarker in the case of the CMT1A/HNPP disorders.