Abstract:
BACKGROUND:More than 90% of spinal muscular atrophy (SMA) patients show homozygous deletion of SMN1 (survival motor neuron 1). They retain SMN2, a highly homologous gene to SMN1, which may partially compensate for deletion of SMN1. Although the promoter sequences of these two genes are almost identical, a GCC insertion polymorphism has been identified at c.-320_-321 in the SMN1 promoter. We have also found this insertion polymorphism in an SMN2 promoter in an SMA patient (Patient A) who has SMA type 2/3. PURPOSE:The aims of this study were to determine the frequency of the GCC insertion polymorphism in SMA patients, and to evaluate its effect on SMN transcription efficiency. PATIENTS AND METHODS:Fifty-one SMA patients, including Patient A, were involved in this study. SMN2 transcript levels in white blood cells were measured by real-time polymerase chain reaction. Screening of the GCC insertion polymorphism was performed using denaturing high-pressure liquid chromatography. The transcription efficiency of the promoter with the insertion mutation was evaluated using a reporter-gene assay. RESULTS:All SMA patients in this study were homozygous for SMN1 deletion. Patient A retained two copies of SMN2, and showed only a small amount of SMN2 transcript in white blood cells. We detected a GCC insertion polymorphism at c.-320_-321 only in Patient A, and not in 50 other SMA patients. The polymorphism had a slight but significant negative effect on transcription efficiency. DISCUSSION AND CONCLUSION:Patient A was judged to be an exceptional case of SMA, because the GCC insertion polymorphism rarely exists in SMN1-deleted SMA patients. The GCC insertion polymorphism did not enhance the transcriptional efficiency of SMN2. Thus, this GCC insertion polymorphism in the SMN2 promoter may not be associated with the milder phenotype of the patient. Patient A suggests that there are other unknown factors modifying the clinical phenotype of SMA.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Harahap NI,Takeuchi A,Yusoff S,Tominaga K,Okinaga T,Kitai Y,Takarada T,Kubo Y,Saito K,Sa'adah N,Nurputra DK,Nishimura N,Saito T,Nishio Hdoi
10.1016/j.braindev.2014.10.006subject
Has Abstractpub_date
2015-08-01 00:00:00pages
669-76issue
7eissn
0387-7604issn
1872-7131pii
S0387-7604(14)00254-Xjournal_volume
37pub_type
杂志文章abstract:BACKGROUND:The pathogenesis of acute encephalopathy (AE) remains unclear, and a biomarker has not been identified. METHODS:Levels of 49 cytokines and chemokines, including osteopontin (OPN), were measured in serum and cerebrospinal fluid (CSF) of children with AE (n = 17) or febrile convulsion (FC; n = 8; control grou...
journal_title:Brain & development
pub_type: 杂志文章
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journal_title:Brain & development
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journal_title:Brain & development
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.08.006
更新日期:2013-06-01 00:00:00
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journal_title:Brain & development
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journal_title:Brain & development
pub_type: 杂志文章
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更新日期:1989-01-01 00:00:00
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journal_title:Brain & development
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更新日期:1997-09-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.12.006
更新日期:2006-08-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80067-2
更新日期:1990-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(98)00065-5
更新日期:1999-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
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更新日期:2017-04-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
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更新日期:2001-11-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章,评审
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更新日期:1989-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
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更新日期:1980-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
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更新日期:1997-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.06.001
更新日期:2016-11-01 00:00:00
abstract:BACKGROUND:The majority of spinal muscular atrophy (SMA) patients showed homozygous deletion or other mutations of SMN1. However, the genetic etiology of a significant number of SMA patients has not been clarified. Recently, mutation in the gene underlying cat SMA, limb expression 1 (LIX1), has been reported. Similarit...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.06.008
更新日期:2010-05-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.08.004
更新日期:2013-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.10.007
更新日期:2011-08-01 00:00:00
abstract::Valproic acid (VPA) is a widely used and well-tolerable antiepileptic drug in epileptic patients. However, VPA has many side effects dose-dependent or non-dose-dependent. It is reported that VPA treatment may lead to biotin deficiency and low serum and liver tissue biotinidase enzyme activity (BEA). Major clinical man...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.07.008
更新日期:2009-06-01 00:00:00
abstract::Bickerstaff's brainstem encephalitis (BBE) is a rare immune-mediated disorder characterized by ophthalmoplegia, ataxia and disturbance of consciousness, which may overlap with Guillain-Barré syndrome (GBS) if there is additional limb weakness. We report a 7-month-old boy presented with ophthalmoplegia followed by a ra...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.02.001
更新日期:2018-06-01 00:00:00