Pelizaeus-Merzbacher disease: Cellular pathogenesis and pharmacologic therapy

Pediatrics International

Volumn 56, Issue 5, 2014, Pages 659-666

  Torii, Tomohiro ^a   Miyamoto, Yuki ^a   Yamauchi, Junji ^a,b,c   Tanoue, Akito ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c The Japan Human Health Sciences Foundation   (Japan)

Author keywords

cellular pathogenesis; hypomyelination; Pelizaeus Merzbacher disease; pharmacologic therapy; proteolipid protein 1; X linked leukodystrophy

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE INHIBITOR; NEW DRUG; PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG;

ARTICLE; CELLULAR PATHOGENESIS; CENTRAL NERVOUS SYSTEM DISEASE; DISEASE SEVERITY; DRUG MECHANISM; GENE DELETION; GENE DUPLICATION; HUMAN; MENTAL DEVELOPMENT; MOLECULAR PATHOLOGY; MYELIN DEFICIENCY; NERVE CELL LESION; NONHUMAN; OLIGODENDROGLIA; PATHOGENESIS; PELIZAEUS MERZBACHER DISEASE; PHARMACEUTICAL CARE; PHENOTYPE; PHYSICAL DEVELOPMENT; POINT MUTATION; PRIORITY JOURNAL; PROTEOLIPID PROTEIN 1 GENE; QUALITY OF LIFE; CHILD; GENETICS; PELIZAEUS-MERZBACHER DISEASE;

CHILD; HUMANS; PELIZAEUS-MERZBACHER DISEASE;

EID: 84930181896     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/ped.12450     Document Type: Article

References (82)

1. Morrell P, Quarles RH,. Myelin formation, structure and biochemistry. In:, Siegel GJ, Agranoff BW, Albers RW, et al (eds). Basic Neurochemistry, 6th edn. Lippincott-Raven, New York, 1999; 69-93.
2. Edgar JM, Nave KA,. The role of CNS glia in preserving axon function. Curr. Opin. Neurobiol. 2009; 19: 498-504.
3. Rushton WA,. A theory of the effects of fibre size in medullated nerve. J. Physiol. 1951; 115: 101-122.
4. Yin X, Baek RC, Kirschner DA, et al. Evolution of a neuroprotective function of central nervous system myelin. J. Cell Biol. 2006; 172: 469-478.
5. Pelizaeus F,. Uber eine eigentumliche Form spatischer Lahmung mit Zerebralerscheinungen auf hereditarer Grundlage (multiple Sklerose). Arch. Psychiatr. Nervenkr. 1885; 16: 698.
6. Merzbacher L,. Gesetzmaessigkeiten in der Vererbung und Verbreitung vershiedener hereditaer-familiaerer Erkrankungen. Arch. Rass. Ges. Biol. 1909; 6: 172-198.
7. Numata Y, Gotoh L, Iwaki A, et al. Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies. J. Neurol. 2014; 261: 752-758.
8. Hobson GM, Garbern JY,. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders. Semin. Neurol. 2012; 32: 62-67.
9. Regis S, Grossi S, Lualdi S, et al. Diagnosis of Pelizaeus-Merzbacher disease: Detection of proteolipid protein gene copy number by real-time PCR. Neurogenetics 2005; 6: 73-78.
10. Wolf NI, Sistermans EA, Cundall M, et al. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. Brain 2005; 128: 743-751.
11. Inoue K, Kanai M, Tanabe Y, et al. Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease. Prenat. Diagn. 2001; 21: 1133-1136.
12. Shimojima K, Inoue T, Hoshino A, et al. Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications. Brain Dev. 2010; 32: 171-179.
13. Cailloux F, Gauthier-Barichard F, Mimault C, et al. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Eur. J. Hum. Genet. 2000; 8: 837-845.
14. Seitelberger F,. Pelizaeus-Merzbacher disease. In:, Vinken PJ, Bruyn GW, (eds). Handbook of Clinical Neurology. Leucodystrophies and Poliodystrophies. Elsevier, Amsterdam, 1970; 150-220.
15. Renier WO, Gabreels FJ, Hustinx TW, et al. Connatal Pelizaeus-Merzbacher disease with congenital stridor in two maternal cousins. Acta Neuropathol. 1981; 54: 11-17.
16. Orthmann-Murphy JL, Enriquez AD, Abrams CK, et al. Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease. Mol. Cell. Neurosci. 2007; 34: 629-641.
17. Osaka H, Hamanoue H, Yamamoto R, et al. Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease. Ann. Neurol. 2010; 68: 250-254.
18. Tress O, Maglione M, Zlomuzica A, et al. Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans. PLoS Genet. 2011; 7: e1002146.
19. Feinstein M, Markus B, Noyman I, et al. Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. Am. J. Hum. Genet. 2010; 87: 820-828.
20. Magen D, Georgopoulos C, Bross P, et al. Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. Am. J. Hum. Genet. 2008; 83: 30-42.
21. Zara F, Biancheri R, Bruno C, et al. Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nat. Genet. 2006; 38: 1111-1113.
22. Miyamoto Y, Torii T, Eguchi T, et al. Hypomyelinating leukodystrophy-associated missense mutant of FMA126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum. J. Clin. Neurosci. 2014; 21: 1033-1039.
23. Purnell SM, Bleyl SB, Bonkowsky JL,. Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. Pediatr. Neurol. 2014; 50: 608-611.
24. Bernard G, Chouery E, Putorti ML, et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am. J. Hum. Genet. 2011; 89: 415-423.
25. Saitsu H, Osaka H, Sasaki M, et al. Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am. J. Hum. Genet. 2011; 89: 644-651.
26. Shimomura C, Matsui A, Choh H, et al. Magnetic resonance imaging in Pelizaeus-Merzbacher disease. Pediatr. Neurol. 1988; 4: 124-125.
27. Wang PJ, Young C, Liu HM, et al. Neurophysiologic studies and MRI in Pelizaeus-Merzbacher disease: Comparison of classic and connatal forms. Pediatr. Neurol. 1995; 12: 47-53.
28. Nezu A, Kimura S, Takeshita S, et al. An MRI and MRS study of Pelizaeus-Merzbacher disease. Pediatr. Neurol. 1998; 18: 334-337.
29. Takahashi J, Inoue K, Tomita M, et al. Brain N-acetylaspartate is elevated in Pelizaeus Merzbacher disease with PLP1 duplication. Neurology 2002; 58: 237-241.
30. Hanefeld FA, Brockmann K, Pouwels PJ, et al. Quantitative proton MRS of Pelizaeus-Merzbacher disease: Evidence of dys- and hypomyelination. Neurology 2005; 65: 701-706.
31. Plecko B, Stockler-Ipsiroglu S, Gruber S, et al. Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype. Neuropediatrics 2003; 34: 127-136.
32. Hudson LD, Garbern JY, Kamholz JA,. Pelizaeus-Merzbacher disease. In:, Lazzarini RA, Griffin JW, Lassmann H, Nave K-A, Miller RH, Trap BD, (eds). Myelin Biology and Disorders. Elsevier, Amsterdam, 2004; 867-885.
33. Sidman RL, Dickie MM, Appel SH,. Mutant mice (quaking and jimpy) with deficient myelination in the central nervous system. Science 1964; 144: 309-311.
34. Knapp PE, Skoff RP, Redstone DW,. Oligodendroglial cell death in jimpy mice: An explanation for the myelin deficit. J. Neurosci. 1986; 6: 2813-2822.
35. Verhagen WI, Huygen PL, Smeets HJ, et al. A new proteolipid lipoprotein mutation in Pelizaeus-Merzbacher disease. J. Neurol. Sci. 1997; 147: 215-216.
36. Hübner CA, Orth U, Senning A, et al. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. Hum. Mutat. 2005; 25: 321-322.
37. Mimault C, Giraud C, Courtois V, et al. Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: Duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease. Am. J. Hum. Genet. 1999; 65: 360-369.
38. Pratt VM, Boyajiev S, Green K, et al. Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus. Am. J. Med. Genet. 1995; 58: 70-73.
39. Doll R, Natowicz MR, Schiffmann R, et al. Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease. Am. J. Med. Genet. 1992; 51: 161-169.
40. Strautnieks S, Rutland P, Winter RM, et al. Pelizaeus-Merzbacher disease: Detection of mutations Thr181-Pro and Leu223-Pro in the proteolipid protein gene, and prenatal diagnosis. Am. J. Med. Genet. 1992; 51: 871-878.
41. Nagao M, Kadowaki J,. Connatal Pelizaeus-Merzbacher disease: A missense mutation in exon 4 of the proteolipid protein (PLP) gene. J. Hum. Genet. 1998; 43: 206-208.
42. Iwaki A, Muramoto T, Iwaki I, et al. A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family. Hum. Mol. Genet. 1993; 2: 19-21.
43. Seeman P, Paderova K, Benes V, et al. A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the Jimpy(msd) codon in the PLP gene. Int. J. Mol. Med. 2002; 9: 125-129.
44. Yamamoto T, Nanba E,. A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease. Hum. Mutat. 1999; 14: 182.
45. Sistermans EA, de Wijs IJ, Elmslie F, et al. Gene symbol: PLP disease: Pelizaeus-Merzbacher disease. Hum. Genet. 1999; 104: 195.
46. Trofatter JA, Dlouhy SR, DeMyer W, et al. Pelizaeus-Merzbacher disease: Tight linkage to proteolipid protein gene exon variant. Proc. Natl Acad. Sci. USA 1989; 86: 9427-9430.
47. Osaka H, Kawanishi C, Inoue K, et al. Pelizaeus-Merzbacher disease: Three novel mutations and implication for locus heterogeneity. Ann. Neurol. 1999; 45: 59-64.
48. Hudson LD, Puckett C, Berndt J, et al. Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proc. Natl Acad. Sci. USA 1989; 86: 8128-8131.
49. Koizume S, Takizawa S, Fujita K, et al. Aberrant trafficking of a proteolipid protein in a mild Pelizaeus-Merzbacher disease. Neuroscience 2006; 141: 1861-1869.
50. Kibe T, Miyahara J, Yokochi K, et al. A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease. Brain Dev. 2009; 31: 248-251.
51. Inoue K, Osaka H, Kawanishi C, et al. Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease. Neurology 1997; 48: 283-285.
52. Gencic S, Abuelo D, Ambler M, et al. Pelizaeus-Merzbacher disease: An X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Am. J. Hum. Genet. 1989; 45: 435-442.
53. Pham-Dinh D, Popot JL, Boespflug-Tanguy O, et al. Pelizaeus-Merzbacher disease: A valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid. Proc. Natl Acad. Sci. USA 1991; 88: 7562-7566.
54. Saugier-Veber P, Munnich A, Bonneau D, et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat. Genet. 1994; 6: 257-262.
55. Sivakumar K, Sambuughin N, Selenge B, et al. Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members. Ann. Neurol. 1999; 45: 680-683.
56. Hodes ME, Hajisavvas A, Butler IJ, et al. X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP). Am. J. Med. Genet. 1998; 75: 516-517.
57. Kobayashi H, Hoffman EP, Marks HG,. The rumpshaker mutation in spastic paraplegia. Nat. Genet. 1994; 7: 351-352.
58. Lee ES, Moon HK, Park YH, et al. A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene. J. Neurol. Sci. 2004; 224: 83-87.
59. Cambi F, Tang XM, Cordray P, et al. Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. Neurology 1996; 46: 1112-1117.
60. Donnelly A, Colley A, Crimmins D, et al. A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia. Hum. Mutat. 1996; 8: 384-385.
61. Skoff RP,. Programmed cell death in the dysmyelinating mutants. Brain Pathol. 1995; 5: 283-288.
62. Gow A, Lazzarini RA,. A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease. Nat. Genet. 1996; 13: 422-428.
63. Gow A, Southwood CM, Lazzarini RA,. Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus Merzbacher disease. J. Cell Biol. 1998; 140: 925-934.
64. Karim SA, Barrie JA, McCulloch MC, et al. PLP overexpression perturbs myelin protein composition and myelination in a mouse model of Pelizaeus-Merzbacher disease. Glia 2007; 55: 341-351.
65. Simons M, Kramer EM, Macchi P, et al. Overexpression of the myelin proteolipid protein leads to accumulation of cholesterol and proteolipid protein in endosomes/lysosomes: Implications for Pelizaeus-Merzbacher disease. J. Cell Biol. 2002; 157: 327-336.
66. Readhead C, Schneider A, Griffiths IR, et al. Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage. Neuron 1994; 12: 583-595.
67. Kagawa T, Ikenaka K, Inoue Y, et al. Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene. Neuron 1994; 13: 427-442.
68. Johnson RS, Roder JC, Riordan JR,. Over-expression of the DM-20 myelin proteolipid causes central nervous system demyelination in transgenic mice. J. Neurochem. 1995; 64: 967-976.
69. Dhanasekaran DN, Reddy EP,. JNK signaling in apoptosis. Oncogene 2008; 27: 6245-6251.
70. Hetz C,. The unfolded protein response: Controlling cell fate decisions under ER stress and beyond. Nat. Rev. Mol. Cell Biol. 2012; 13: 89-102.
71. D'Antonio M, Feltri ML, Wrabetz L,. Myelin under stress. J. Neurosci. Res. 2009; 87: 3241-3249.
72. Mothe AJ, Tator CH,. Transplanted neural stem/progenitor cells generate myelinating oligodendrocytes and Schwann cells in spinal cord demyelination and dysmyelination. Exp. Neurol. 2008; 213: 176-190.
73. Goolsby J, Makar T, Dhid-Jalbut S, et al. Hematopoietic progenitors express myelin basic protein and ensheath axons in Shiverer brain. J. Neuroimmunol. 2013; 257: 13-20.
74. Mikoshiba K, Kohsaka S, Takamatsu K, et al. Neurochemical and morphological studies on the myelin of peripheral nervous system from Shiverer mutant mice: Absence of basic proteins common to central nervous system. Brain Res. 1981; 204: 455-460.
75. Chernoff GF,. Shiverer: An autosomal recessive mutant mouse with myelin deficiency. J. Hered. 1981; 72: 128.
76. Uchida N, Chen K, Dohse M, et al. Human neural stem cells induce functional myelination in mice with severe dysmyelination. Sci. Transl. Med. 2012; 4: 155ra136.
77. Gupta N, Henry RG, Strober J, et al. Neural stem cell engraftment and myelination in the human brain. Sci. Transl. Med. 2012; 4: 155ra137.
78. Shinojima K, Inoue T, Imai Y, et al. Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. J. Hum. Genet. 2012; 57: 580-586.
79. Emborg ME, Liu Y, Xi J, et al. Induced pluripotent stem cell-derived neuronal cells survive and mature in the nonhuman primate brain. Cell Rep. 2013; 3: 646-650.
80. Saher G, Rudolphi F, Corthais K, et al. Therapy of Pelizaeus-Merzbacher disease in mice by feeding a cholesterol-enriched diet. Nat. Med. 2012; 18: 1130-1135.
81. Karim SA, Barrie JA, McCulloch MC, et al. PLP/DM20 expression and turnover in a transgenic mouse model of Pelizaeus-Merzbacher disease. Glia 2010; 58: 1727-1738.
82. Miyamoto Y, Torii T, Tanoue A, et al. Pelizaeus-Merzbacher disease-associated proteolipid protein 1 inhibits oligodendrocyte precursor cell differentiation via extracellular-signal related kinase signaling. Biochem. Biophys. Res. Commun. 2012; 424: 262-268.