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Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome

ABSTRACT: Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome

PROVIDER: PRJNA668757 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR12811805_1.fastq.gz	Fastqsanger.gz
	SRR12811805_2.fastq.gz	Fastqsanger.gz
	SRR12811806_1.fastq.gz	Fastqsanger.gz
	SRR12811806_2.fastq.gz	Fastqsanger.gz
	SRR12811807_1.fastq.gz	Fastqsanger.gz

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Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome

Project description:We evaluate cellular phenotypic abnormalities and alterations in molecular pathways due to mutations in the gene TCF4 in cells derived from Pitt-Hopkins patients, in comparison with respective controls (parents).

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Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome IV

Project description:Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome IV

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Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome III

Project description:Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome III

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Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome II

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Disordered breathing in Pitt Hopkins syndrome involves disruption of parafacial respiratory neurons and aberrant expression of Nav1.8.

Project description:Pitt-Hopkins syndrome (PTHS) is a rare autism spectrum-like disorder characterized by intellectual disability, developmental delays and breathing problems involving episodes of hyperventilation followed by apnea. PTHS is caused by functional haploinsufficiency of the gene encoding transcription factor 4 (Tcf4). Despite the severity of this disease, virtually nothing is known regarding mechanisms contributing to PTHS behavioral abnormalities, and candidate therapeutic targets are lacking. Here, we show that a Tcf4 truncation (Tcf4tr/+) mouse model of PTHS recapitulates respiratory phenotypes observed in PTHS patients. The basis of this behavior deficit involves selective loss of putative expiratory parafacial neurons and compromised function of neurons in the retrotrapezoid nucleus that regulate breathing in response to tissue CO2/H+. We also show that central Nav1.8 channels can be targeted pharmacologically to improve respiratory function at the cellular and behavioral levels in Tcf4tr/+ mice, thus establishing Nav1.8 as a high priority target with therapeutic potential in PTHS.

2021-09-02 | GSE174417 | GEO

GNPS - Pitt Hopkins

Project description:Data was collected on a LC-MS/MS system (c18 column) positive mode. Data from the children diagnosed with Pitt Hopkins disease and their healthy parents.

2019-01-23 | MSV000083357 | GNPS

Pitt-Hopkins Syndrome.

Project description:Pitt-Hopkins syndrome (PTHS, MIM #610954) is characterized by severe intellectual disability, typical facial features and tendency to epilepsy, panting-and-holding breathing anomaly, stereotypic movements, constipation, and high myopia. Growth is normal or only mildly retarded, but half of the patients have postnatal microcephaly. Remarkably, congenital malformations are practically nonexistent. The cause of PTHS is de novo haploinsufficiency of the TCF4 gene (MIM *602272) at 18q21.2. Altogether 78 PTHS patients with abnormalities of the TCF4 gene have been published since 2007 when the etiology of PTHS was revealed. In addition, 27 patients with 18q deletion encompassing the TCF4 gene but without given PTHS diagnosis have been published, and thus, the number of reported patients with a TCF4 abnormality exceeds 100. The mutational spectrum includes large chromosomal deletions encompassing the whole TCF4 gene, partial gene deletions, frameshift (including premature stop codon), nonsense, splice site, and missense mutations. So far, almost all patients have a private mutation and only 2 recurrent mutations are known. There is no evident genotype-phenotype correlation. No familial cases have been reported. Diagnosis of PTHS is based on the molecular confirmation of the characteristic clinical features. Recently, a Pitt-Hopkins-like phenotype has been assigned to autosomal recessive mutations of the CNTNAP2 gene at 7q33q36 and the NRXN1 gene at 2p16.3.

| S-EPMC3366706 | biostudies-literature

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