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Capturing the biology of mild versus severe disease in a pluripotent stem cell-based model of Familial Dysautonomia

ABSTRACT: Familial Dysautonomia is a genetic disease, however patietns with the same genotype present with mild or severe forms of the disease. We used the pluripotent stem cell technology to capture the differences in disease severity in vitro during neurodevelopment as well as during maintanance of the cells, showing developmental and degenerative phenotypes. RNA seq. analysis of the groups confirmed those diffferences.

ORGANISM(S): Homo sapiens

PROVIDER: GSE77513 | GEO | 2016/11/14

SECONDARY ACCESSION(S): PRJNA310674

REPOSITORIES: GEO

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Capturing the Biology of Mild Versus Severe Disease in a Pluripotent Stem Cell-Based Model of Familial Dysautonomia

Project description:Capturing the Biology of Mild Versus Severe Disease in a Pluripotent Stem Cell-Based Model of Familial Dysautonomia

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Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.

Project description: Not available

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Project description:<p>Familial Dysautonomia (FD) is a developmental and degenerative genetic disease that manifests in the neural crest cells and peripheral nervous system (PNS). Despite all FD patients having the same mutation in <i>IKBKAP</i>, patients present with varying disease severity, ranging from mild to severe. We used the human pluripotent stem cell technology to recapitulate this varying disease severity in the dish. Further, we found that severe, but not mild patients harbor mutations in candidate modifier genes that may contribute to severe disease presentation.</p>

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RNA sequencing of hiPSC derived neural crest populations from Familial Dysautonomia patients

2016-10-25 | GSE67073 | GEO

Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells, implications for Familial dysautonomia

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ELP1 splicing correction reverses proprioceptive sensory loss in familial dysautonomia

Project description:Familial dysautonomia (FD) is a recessive neurodegenerative disease caused by a splice mutation in Elongator complex protein 1 (ELP1, also known as IKBKAP) which leads to variable skipping of exon 20 and to a drastic reduction of ELP1 levels in the nervous system. Clinically, many of the debilitating aspects of the disease are related to a progressive loss of proprioception, which leads to severe gait ataxia, spinal deformities and respiratory insufficiency due to neuromuscular incoordination. There is currently no effective treatment for FD and the disease is ultimately fatal. Development of a drug that targets the underlying molecular defect provides hope that the drastic peripheral neurodegeneration characteristic of FD can be halted. We demonstrate herein that the FD mouse, TgFD9; IkbkapΔ20/flox, recapitulates the proprioceptive impairment observed in individuals with FD, and we provide the in vivo evidence that postnatal correction of mutant ELP1 splicing promoted by the small molecule kinetin can rescue neurological phenotypes in FD. Daily administration of kinetin starting at birth improves sensory-motor coordination and prevents the onset of spinal abnormalities by stopping the loss of proprioceptive neurons. These phenotypic improvements correlate with increased levels of full length ELP1 mRNA and protein in multiple tissues including the peripheral nervous system (PNS). Our results show that postnatal correction of the underlying ELP1 splicing defect can rescue devastating disease phenotypes and is therefore a viable therapeutic approach for persons with FD.

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