publication . Article . 2017

Gestational Age-Dependent Increase of Survival Motor Neuron Protein in Umbilical Cord-Derived Mesenchymal Stem Cells.

Iwatani, Sota; Harahap, Nur Imma Fatimah; Nurputra, Dian Kesumapramudya; Tairaku, Shinya; Shono, Akemi; Kurokawa, Daisuke; Yamana, Keiji; Thwin, Khin Kyae Mon; Yoshida, Makiko; Mizobuchi, Masami; ...
Open Access English
  • Published: 05 Sep 2017 Journal: Frontiers in Pediatrics (issn: 2296-2360, Copyright policy)
  • Publisher: Frontiers Media S.A.
Abstract
Background: Spinal muscular atrophy (SMA) is the most common genetic neurological disease leading to infant death. It is caused by loss of survival motor neuron (SMN) 1 gene and subsequent reduction of SMN protein in motor neurons. Because SMN is ubiquitously expressed and functionally linked to general RNA metabolism pathway, fibroblasts are most widely used for the assessment of SMN expression in SMA patients but usually isolated from skin biopsy samples after the onset of overt symptoms. Although recent translational studies of SMN-targeted therapies have revealed the very limited time-window for effective SMA therapies during perinatal period, the exact time...
Subjects
Medical Subject Headings: nervous system diseasesanimal diseases
free text keywords: spinal muscular atrophy, survival motor neuron-targeted therapy, umbilical cord-derived mesenchymal stem cell, gestational age, perinatal development, Pediatrics, RJ1-570, Original Research, Intensive care medicine, medicine.medical_specialty, medicine, SMA*, Histone deacetylase inhibitor, medicine.drug_class, Motor neuron, medicine.anatomical_structure, Fetus, Andrology, Immunology, Mesenchymal stem cell, Messenger RNA, Umbilical cord, medicine.disease, business.industry, business
30 references, page 1 of 2

1 Lunn MR Wang CH. Spinal muscular atrophy. Lancet (2008) 371:2120–33.10.1016/S0140-6736(08)60921-6 18572081 [PubMed] [DOI]

2 Nurputra DK Lai PS Harahap NIF Morikawa S Yamamoto T Nishimura N Spinal muscular atrophy: from gene discovery to clinical trials. Ann Hum Genet (2013) 77:435–63.10.1111/ahg.12031 23879295 [OpenAIRE] [PubMed] [DOI]

3 Prior TW Snyder PJ Rink BD Pearl DK Pyatt RE Mihal DC Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A (2010) 152A:1608–16.10.1002/ajmg.a.33474 20578137 [PubMed] [DOI]

4 Lefebvre S Bürglen L Reboullet S Clermont O Burlet P Viollet L Identification and characterization of a spinal muscular atrophy-determining gene. Cell (1995) 80:155–65.10.1016/0092-8674(95)90460-3 7813012 [OpenAIRE] [PubMed] [DOI]

5 Lorson CL Hahnen E Androphy EJ Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A (1999) 96:6307–11.10.1073/pnas.96.11.6307 10339583 [OpenAIRE] [PubMed] [DOI]

6 Kolb SJ Kissel JT. Spinal muscular atrophy: a timely review. Arch Neurol (2011) 68:979–84.10.1001/archneurol.2011.74 21482919 [OpenAIRE] [PubMed] [DOI]

7 Zanetta C Nizzardo M Simone C Monguzzi E Bresolin N Comi GP Molecular therapeutic strategies for spinal muscular atrophies: current and fut ure clinical trials. Clin Ther (2014) 36:128–40.10.1016/j.clinthera.2013.11.006 24360800 [OpenAIRE] [PubMed] [DOI]

8 Brichta L Holker I Haug K Klockgether T Wirth B. In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann Neurol (2006) 59:970–5.10.1002/ana.20836 16607616 [OpenAIRE] [PubMed] [DOI]

9 Swoboda KJ Scott CB Reyna SP Prior TW LaSalle B Sorenson SL Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One (2009) 4:e5268.10.1371/journal.pone.0005268 [OpenAIRE] [DOI]

10 Swoboda KJ Scott CB Crawford TO Simard LR Reyna SP Krosschell KJ SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of l-carnitine and valproic acid in spinal muscular atrophy. PLoS One (2010) 5:e12140.10.1371/journal.pone.0012140 20808854 [OpenAIRE] [PubMed] [DOI]

11 Hua Y Sahashi K Rigo F Hung G Horev G Bennett CF Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature (2011) 478:123–6.10.1038/nature10485 21979052 [OpenAIRE] [PubMed] [DOI]

12 Khorkova O Wahlestedt C. Oligonucleotide therapies for disorders of the nervous system. Nat Biot echnol (2017) 35:249–63.10.1038/nbt.3784 [OpenAIRE] [DOI]

13 Foust KD Wang X McGovern VL Braun L Bevan AK Haidet AM Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol (2010) 28:271–4.10.1038/nbt.1610 20190738 [OpenAIRE] [PubMed] [DOI]

14 Lutz CM Kariya S Patruni S Osborne MA Liu D Henderson CE Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. J Clin Invest (2011) 121:3029–41.10.1172/JCI57291 21785219 [OpenAIRE] [PubMed] [DOI]

15 Le TT McGovern VL Alwine IE Wang X Massoni-Laporte A Rich MM Temporal requirement for high SMN expression in SMA mice. Hum Mol Genet (2011) 20:3578–91.10.1093/hmg/ddr275 21672919 [OpenAIRE] [PubMed] [DOI]

30 references, page 1 of 2
Abstract
Background: Spinal muscular atrophy (SMA) is the most common genetic neurological disease leading to infant death. It is caused by loss of survival motor neuron (SMN) 1 gene and subsequent reduction of SMN protein in motor neurons. Because SMN is ubiquitously expressed and functionally linked to general RNA metabolism pathway, fibroblasts are most widely used for the assessment of SMN expression in SMA patients but usually isolated from skin biopsy samples after the onset of overt symptoms. Although recent translational studies of SMN-targeted therapies have revealed the very limited time-window for effective SMA therapies during perinatal period, the exact time...
Subjects
Medical Subject Headings: nervous system diseasesanimal diseases
free text keywords: spinal muscular atrophy, survival motor neuron-targeted therapy, umbilical cord-derived mesenchymal stem cell, gestational age, perinatal development, Pediatrics, RJ1-570, Original Research, Intensive care medicine, medicine.medical_specialty, medicine, SMA*, Histone deacetylase inhibitor, medicine.drug_class, Motor neuron, medicine.anatomical_structure, Fetus, Andrology, Immunology, Mesenchymal stem cell, Messenger RNA, Umbilical cord, medicine.disease, business.industry, business
30 references, page 1 of 2

1 Lunn MR Wang CH. Spinal muscular atrophy. Lancet (2008) 371:2120–33.10.1016/S0140-6736(08)60921-6 18572081 [PubMed] [DOI]

2 Nurputra DK Lai PS Harahap NIF Morikawa S Yamamoto T Nishimura N Spinal muscular atrophy: from gene discovery to clinical trials. Ann Hum Genet (2013) 77:435–63.10.1111/ahg.12031 23879295 [OpenAIRE] [PubMed] [DOI]

3 Prior TW Snyder PJ Rink BD Pearl DK Pyatt RE Mihal DC Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A (2010) 152A:1608–16.10.1002/ajmg.a.33474 20578137 [PubMed] [DOI]

4 Lefebvre S Bürglen L Reboullet S Clermont O Burlet P Viollet L Identification and characterization of a spinal muscular atrophy-determining gene. Cell (1995) 80:155–65.10.1016/0092-8674(95)90460-3 7813012 [OpenAIRE] [PubMed] [DOI]

5 Lorson CL Hahnen E Androphy EJ Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A (1999) 96:6307–11.10.1073/pnas.96.11.6307 10339583 [OpenAIRE] [PubMed] [DOI]

6 Kolb SJ Kissel JT. Spinal muscular atrophy: a timely review. Arch Neurol (2011) 68:979–84.10.1001/archneurol.2011.74 21482919 [OpenAIRE] [PubMed] [DOI]

7 Zanetta C Nizzardo M Simone C Monguzzi E Bresolin N Comi GP Molecular therapeutic strategies for spinal muscular atrophies: current and fut ure clinical trials. Clin Ther (2014) 36:128–40.10.1016/j.clinthera.2013.11.006 24360800 [OpenAIRE] [PubMed] [DOI]

8 Brichta L Holker I Haug K Klockgether T Wirth B. In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann Neurol (2006) 59:970–5.10.1002/ana.20836 16607616 [OpenAIRE] [PubMed] [DOI]

9 Swoboda KJ Scott CB Reyna SP Prior TW LaSalle B Sorenson SL Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One (2009) 4:e5268.10.1371/journal.pone.0005268 [OpenAIRE] [DOI]

10 Swoboda KJ Scott CB Crawford TO Simard LR Reyna SP Krosschell KJ SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of l-carnitine and valproic acid in spinal muscular atrophy. PLoS One (2010) 5:e12140.10.1371/journal.pone.0012140 20808854 [OpenAIRE] [PubMed] [DOI]

11 Hua Y Sahashi K Rigo F Hung G Horev G Bennett CF Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature (2011) 478:123–6.10.1038/nature10485 21979052 [OpenAIRE] [PubMed] [DOI]

12 Khorkova O Wahlestedt C. Oligonucleotide therapies for disorders of the nervous system. Nat Biot echnol (2017) 35:249–63.10.1038/nbt.3784 [OpenAIRE] [DOI]

13 Foust KD Wang X McGovern VL Braun L Bevan AK Haidet AM Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol (2010) 28:271–4.10.1038/nbt.1610 20190738 [OpenAIRE] [PubMed] [DOI]

14 Lutz CM Kariya S Patruni S Osborne MA Liu D Henderson CE Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. J Clin Invest (2011) 121:3029–41.10.1172/JCI57291 21785219 [OpenAIRE] [PubMed] [DOI]

15 Le TT McGovern VL Alwine IE Wang X Massoni-Laporte A Rich MM Temporal requirement for high SMN expression in SMA mice. Hum Mol Genet (2011) 20:3578–91.10.1093/hmg/ddr275 21672919 [OpenAIRE] [PubMed] [DOI]

30 references, page 1 of 2
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publication . Article . 2017

Gestational Age-Dependent Increase of Survival Motor Neuron Protein in Umbilical Cord-Derived Mesenchymal Stem Cells.

Iwatani, Sota; Harahap, Nur Imma Fatimah; Nurputra, Dian Kesumapramudya; Tairaku, Shinya; Shono, Akemi; Kurokawa, Daisuke; Yamana, Keiji; Thwin, Khin Kyae Mon; Yoshida, Makiko; Mizobuchi, Masami; ...