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Human Huntington’s Disease iPSC-derived cortical neurons display altered transcriptomics, morphology and electrophysiological maturation

ABSTRACT: Human Huntington’s Disease iPSC-derived cortical neurons display altered transcriptomics, morphology and electrophysiological maturation

PROVIDER: PRJNA431312 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR6505070.fastq.gz	Fastqsanger.gz
	SRR6505080.fastq.gz	Fastqsanger.gz
	SRR6505071.fastq.gz	Fastqsanger.gz
	SRR6505081.fastq.gz	Fastqsanger.gz
	SRR6505072.fastq.gz	Fastqsanger.gz

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Project description:Abstract Autonomic dysfunction has been described in patients with Huntington’s disease, but it is unclear if these changes in autonomic tone are related to the central autonomic network. We performed a pilot study to investigate the relationship between the integrity of the central autonomic network and peripheral manifestiations of autonomic dysfunction in premanifest Huntington’s disease. We recruited male participants with pre-motor-manifest Huntington’s disease and a comparison group consisting of healthy, male participants of approximately the same age. As this was a pilot study, only males were included to reduce confounding. Participants underwent a resting-state functional magnetic resonance imaging study to quantify functional connectivity within the central autonomic network, as well as a resting 3-lead ECG to measure heart rate variability with a particular focus on the parasympathetic time-domain measures of root mean square of successive differences between normal heartbeats. The pre-motor-manifest Huntington’s disease participants had significantly decreased root mean square of successive differences between normal heartbeats values compared with the healthy comparison group. The pre-motor-manifest Huntington’s disease group had significantly lower functional connectivity within the central autonomic network, which was positively correlated with root mean square of successive differences between normal heartbeats. Patients with pre-motor-manifest Huntington’s disease have reduced functional connectivity within the central autonomic network, which is significantly associated with observed changes in autonomic function. Schultz et al. report that autonomic dysfunction in patients with presymptomatic Huntington’s disease was associated with decreased functional connectivity within the Central Autonomic Network. These results provide insight into the underlying pathology of autonomic dysfunction in Huntington’s disease and its possible use as a marker for disease progression. Graphical Abstract Graphical abstract

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Human Huntington’s Disease iPSC-derived cortical neurons display altered transcriptomics, morphology and electrophysiological maturation

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