Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy

被引：6

作者：

Tsai, Li-Kai ^{[2
]}

Yang, Chih-Chao ^{[2
]}

Ting, Chen-Hung ^{[1
]}

Su, Yi-Ning ^{[3
,4
]}

Hwu, Wuh-Liang ^{[3
,4
]}

Li, Hung ^{[1
]}

机构：

[1] Acad Sinica, Inst Mol Biol, Taipei 115, Taiwan

[2] Natl Taiwan Univ Hosp, Dept Neurol, Taipei, Taiwan

[3] Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

[4] Natl Taiwan Univ, Coll Med, Taipei 10764, Taiwan

来源：

JOURNAL OF PEDIATRICS | 2009年 / 154卷 / 02期

关键词：

PERIPHERAL-BLOOD; MOUSE MODEL;

D O I：

10.1016/j.jpeds.2008.08.050

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Survival motor neuron (SMN) messenger RNA and protein levels in spinal muscular atrophy (SMA) model mice and in patients with SMA were measured. There was a high correlation between leukocyte and spinal cord SMN expression in SMA model mice and a moderate correlation between leukocyte SMN expression and age of disease onset in patients with SMA. (J Pediatr 2009;154:303-5)

引用

收藏

页码：303 / 305

页数：3

相关论文

共 9 条

[1] Concerns about the design of clinical trials for spinal muscular atrophy [J].

Crawford, TO .

NEUROMUSCULAR DISORDERS, 2004, 14 (8-9) :456-460

[2] A mouse model for spinal muscular atrophy [J].

Hsieh-Li, HM ;

Chang, JG ;

Jong, YJ ;

Wu, MH ;

Wang, NM ;

Tsai, CH ;

Li, H .

NATURE GENETICS, 2000, 24 (01) :66-70

[3] Analysis of the mRNA transcripts of the survival motor neuron (SMN) gene in the tissue of an SMA fetus and the peripheral blood mononuclear cells of normals, carriers and SMA patients [J].

Jong, YJ ;

Chang, JG ;

Lin, SP ;

Yang, TY ;

Wang, JC ;

Chang, CP ;

Lee, CC ;

Li, H ;

Hsieh-Li, HM ;

Tsai, CH .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2000, 173 (02) :147-153

[4] Correlation between severity and SMN protein level in spinal muscular atrophy [J].

Lefebvre, S ;

Burlet, P ;

Liu, Q ;

Bertrandy, S ;

Clermont, O ;

Munnich, A ;

Dreyfuss, G ;

Melki, J .

NATURE GENETICS, 1997, 16 (03) :265-269

[5] Quantitative analysis of SMN1 and SMN2 genes based on DHPLCC:: A highly efficient and reliable carrier screening test [J].

Su, YN ;

Hung, CC ;

Li, H ;

Lee, CN ;

Cheng, WF ;

Tsao, PN ;

Chang, MC ;

Yu, CL ;

Hsieh, WS ;

Lin, WL ;

Hsu, SM .

HUMAN MUTATION, 2005, 25 (05) :460-467

[6]

SUMNER RMW, 2006, P N Z SOC ANIM PROD, V66, P1

[7] Restoring Bcl-xL levels benefits a mouse model of spinal muscular atrophy [J].

Tsai, Li-Kai ;

Tsai, Ming-Shiun ;

Ting, Chen-Hung ;

Wang, Sue-Hong ;

Li, Hung .

NEUROBIOLOGY OF DISEASE, 2008, 31 (03) :361-367

[8] Abolishing Bax-dependent apoptosis shows beneficial effects on spinal muscular atrophy model mice [J].

Tsai, Ming S. ;

Chiu, Yung T. ;

Wang, Sue H. ;

Hsieh-Li, Hsiu M. ;

Lian, Wei C. ;

Li, Hung .

MOLECULAR THERAPY, 2006, 13 (06) :1149-1155

[9] A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy [J].

Vezain, Myriam ;

Saugier-Veber, Pascale ;

Melki, Judith ;

Toutain, Annick ;

Bieth, Eric ;

Husson, Marie ;

Pedespan, Jean-Michel ;

Viollet, Louis ;

Penisson-Besnier, Isabelle ;

Fehrenbach, Severine ;

Bou, Jacqueline ;

Frebourg, Thierry ;

Tosi, Mario .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (10) :1054-1062