Suppr超能文献

IKAP 表达水平调节家族性自主神经异常小鼠模型的疾病严重程度。

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia.

机构信息

Department of Physiology, The University of Tennessee, Health Science Center, Memphis, TN 38163, USA.

出版信息

Hum Mol Genet. 2012 Dec 1;21(23):5078-90. doi: 10.1093/hmg/dds354. Epub 2012 Aug 24.

Abstract

Hereditary sensory and autonomic neuropathies (HSANs) encompass a group of genetically inherited disorders characterized by sensory and autonomic dysfunctions. Familial dysautonomia (FD), also known as HSAN type III, is an autosomal recessive disorder that affects 1/3600 live births in the Ashkenazi Jewish population. The disease is caused by abnormal development and progressive degeneration of the sensory and autonomic nervous systems and is inevitably fatal, with only 50% of patients reaching the age of 40. FD is caused by a mutation in intron 20 of the Ikbkap gene that results in severe reduction in the expression of its encoded protein, inhibitor of kappaB kinase complex-associated protein (IKAP). Although the mutation that causes FD was identified in 2001, so far there is no appropriate animal model that recapitulates the disorder. Here, we report the generation and characterization of the first mouse models for FD that recapitulate the molecular and pathological features of the disease. Important for therapeutic interventions is also our finding that a slight increase in IKAP levels is enough to ameliorate the phenotype and increase the life span. Understanding the mechanisms underlying FD will provide insights for potential new therapeutic interventions not only for FD, but also for other peripheral neuropathies.

摘要

遗传性感觉和自主神经病(HSANs)包括一组以感觉和自主功能障碍为特征的遗传性疾病。家族性自主神经异常(FD),也称为 HSAN 型 III,是一种常染色体隐性遗传病,在阿什肯纳兹犹太人中每 3600 例活产中就有 1 例。这种疾病是由感觉和自主神经系统的异常发育和进行性退化引起的,不可避免地会导致死亡,只有 50%的患者能活到 40 岁。FD 是由 Ikbkap 基因内含子 20 中的突变引起的,导致其编码蛋白,κB 激酶复合物相关蛋白(IKAP)的表达严重减少。尽管导致 FD 的突变于 2001 年被鉴定出来,但到目前为止,还没有合适的动物模型可以重现这种疾病。在这里,我们报告了第一个 FD 小鼠模型的产生和特征,这些模型重现了疾病的分子和病理特征。对治疗干预很重要的是,我们还发现 IKAP 水平的轻微增加足以改善表型并延长寿命。了解 FD 的发病机制不仅为 FD 提供了新的治疗干预的潜在靶点,也为其他周围神经病提供了新的治疗干预的潜在靶点。

相似文献

1
IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia.
Hum Mol Genet. 2012 Dec 1;21(23):5078-90. doi: 10.1093/hmg/dds354. Epub 2012 Aug 24.
2
Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.
Hum Mol Genet. 2016 Mar 15;25(6):1116-28. doi: 10.1093/hmg/ddv634. Epub 2016 Jan 13.
3
Familial Dysautonomia: Mechanisms and Models.
Genet Mol Biol. 2016 Oct-Dec;39(4):497-514. doi: 10.1590/1678-4685-GMB-2015-0335. Epub 2016 Aug 4.
7
The familial dysautonomia disease gene is required in the developing and adult mouse central nervous system.
Dis Model Mech. 2017 May 1;10(5):605-618. doi: 10.1242/dmm.028258. Epub 2017 Feb 6.
8
Loss of Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia.
eNeuro. 2016 Sep 27;3(5). doi: 10.1523/ENEURO.0143-16.2016. eCollection 2016 Sep-Oct.
9
BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia.
Proc Natl Acad Sci U S A. 2017 May 9;114(19):5035-5040. doi: 10.1073/pnas.1620212114. Epub 2017 Apr 24.

引用本文的文献

3
Height, weight, and body mass index in patients with familial dysautonomia.
PLoS One. 2023 Nov 9;18(11):e0293800. doi: 10.1371/journal.pone.0293800. eCollection 2023.
4
Sensorimotor control in the congenital absence of functional muscle spindles.
Exp Physiol. 2024 Jan;109(1):27-34. doi: 10.1113/EP090768. Epub 2023 Apr 8.
5
Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.
Am J Hum Genet. 2023 Mar 2;110(3):531-547. doi: 10.1016/j.ajhg.2023.01.019. Epub 2023 Feb 20.
6
Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models.
Nat Commun. 2022 Nov 17;13(1):7032. doi: 10.1038/s41467-022-34811-7.
7
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA.
Am J Hum Genet. 2022 Aug 4;109(8):1534-1548. doi: 10.1016/j.ajhg.2022.07.004. Epub 2022 Jul 28.
9
ATP-citrate lyase promotes axonal transport across species.
Nat Commun. 2021 Oct 7;12(1):5878. doi: 10.1038/s41467-021-25786-y.
10
Bone biomechanical properties and tissue-scale bone quality in a genetic mouse model of familial dysautonomia.
Osteoporos Int. 2021 Nov;32(11):2335-2346. doi: 10.1007/s00198-021-06006-1. Epub 2021 May 25.

本文引用的文献

1
IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration.
PLoS One. 2012;7(2):e32050. doi: 10.1371/journal.pone.0032050. Epub 2012 Feb 23.
2
Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome.
J Hum Hypertens. 2013 Jan;27(1):51-5. doi: 10.1038/jhh.2011.107. Epub 2011 Dec 1.
3
Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome?
Brain. 2011 Nov;134(Pt 11):3198-208. doi: 10.1093/brain/awr168.
5
Clinical neuro-ophthalmic findings in familial dysautonomia.
J Neuroophthalmol. 2012 Mar;32(1):23-6. doi: 10.1097/WNO.0b013e318230feab.
6
Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia.
Pediatr Res. 2011 Nov;70(5):480-3. doi: 10.1203/PDR.0b013e31822e1825.
7
IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia.
Hum Mol Genet. 2011 Apr 15;20(8):1585-94. doi: 10.1093/hmg/ddr036. Epub 2011 Jan 27.
8
Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells.
PLoS One. 2010 Dec 29;5(12):e15884. doi: 10.1371/journal.pone.0015884.
10
Renal transplantation in familial dysautonomia: report of two cases and review of the literature.
Clin J Am Soc Nephrol. 2010 Sep;5(9):1676-80. doi: 10.2215/CJN.01750210. Epub 2010 Jun 17.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验