Dataset Information

Clinical Discordance in Monozygotic Twins With Autism Spectrum Disorder.

ABSTRACT: There is a significant concordance of autism spectrum disorder in monozygotic (MZ) twins, where behavioral manifestations are heavily influenced by genetic factors. We describe a case of male monozygotic twins with autism spectrum disorder (ASD), raised in the same household, that present with different clinical manifestations. One of the twins presents with intermittent frank syncopal episodes, sinus bradycardia, and elevated alkaline phosphatase (ALP), while the other has symptoms of attention-deficit/hyperactivity disorder (ADHD), normal cardiological findings, and normal ALP level. The clinical discordance in this pair of monozygotic twins may be due to any of the following: 1) neuroanatomic cerebellar differences, 2) variable expression of genotype, and 3) inconsistent neurotransmitter regulation.

SUBMITTER: Ho A

PROVIDER: S-EPMC9170280 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature

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Clinical Discordance in Monozygotic Twins With Autism Spectrum Disorder.

Ho Angela A Towheed Atif A Luong Sandy S Zucker Samuel S Fethke Eric E

Cureus 20220507 5

There is a significant concordance of autism spectrum disorder in monozygotic (MZ) twins, where behavioral manifestations are heavily influenced by genetic factors. We describe a case of male monozygotic twins with autism spectrum disorder (ASD), raised in the same household, that present with different clinical manifestations. One of the twins presents with intermittent frank syncopal episodes, sinus bradycardia, and elevated alkaline phosphatase (ALP), while the other has symptoms of attention ...[more]

PMID: 35686266

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Project description:Habitual short sleep duration is associated with adverse metabolic, cardiovascular, and inflammatory effects. Co-twin study methodologies account for familial (eg, genetics and shared environmental) confounding, allowing assessment of subtle environmental effects, such as the effect of habitual short sleep duration on gene expression. Therefore, we investigated gene expression in monozygotic twins discordant for actigraphically phenotyped habitual sleep duration. Eleven healthy monozygotic twin pairs (82% female; mean age 42.7 years; SD = 18.1), selected based on subjective sleep duration discordance, were objectively phenotyped for habitual sleep duration with 2 weeks of wrist actigraphy. Peripheral blood leukocyte (PBL) RNA from fasting blood samples was obtained on the final day of actigraphic measurement and hybridized to Illumina humanHT-12 microarrays. Differential gene expression was determined between paired samples and mapped to functional categories using Gene Ontology. Finally, a more comprehensive gene set enrichment analysis was performed based on the entire PBL transcriptome. The mean 24-hour sleep duration of the total sample was 439.2 minutes (SD = 46.8 minutes; range 325.4-521.6 minutes). Mean within-pair sleep duration difference per 24 hours was 64.4 minutes (SD = 21.2; range 45.9-114.6 minutes). The twin cohort displayed distinctive pathway enrichment based on sleep duration differences. Habitual short sleep was associated with up-regulation of genes involved in transcription, ribosome, translation, and oxidative phosphorylation. Unexpectedly, genes down-regulated in short sleep twins were highly enriched in immuno-inflammatory pathways such as interleukin signaling and leukocyte activation, as well as developmental programs, coagulation cascade, and cell adhesion. Objectively assessed habitual sleep duration in monozygotic twin pairs appears to be associated with distinct patterns of differential gene expression and pathway enrichment. By accounting for familial confounding and measuring real life sleep duration, our study shows the transcriptomic effects of habitual short sleep on dysregulated immune response and provides a potential link between sleep deprivation and adverse metabolic, cardiovascular, and inflammatory outcomes.

Project description:Short sleep duration is associated with adverse metabolic, cardiovascular, and inflammatory effects. Co-twin study methodologies account for familial (e.g., genetics and shared environmental) confounding, allowing assessment of subtle environmental effects, such as the effect of short habitual sleep duration on gene expression. Therefore, we sought to investigate gene expression in monozygotic twins discordant for actigraphically phenotyped habitual sleep duration. Eleven healthy monozygotic twin pairs (82% female; mean age 42.7 years; SD=18.1), selected based on subjective sleep duration discordance, were objectively phenotyped for habitual sleep duration with two-weeks of wrist actigraphy. Peripheral blood leukocyte (PBL) RNA from fasting blood samples was obtained on the final day of actigraphic measurement and hybridized to Illumina humanHT-12 microarrays. Differential gene expression was determined between paired samples and mapped to functional categories using Gene Ontology. Next, a more comprehensive gene set enrichment analysis was performed based on the entire PBL transcriptome. The mean 24 hour sleep duration of the total sample was 439.2 minutes (SD=46.8 minutes; range 325.4 to 521.6 minutes). Mean within-pair sleep duration difference per 24 hours was 64.4 minutes (SD=21.2; range 45.9 to 114.6 minutes). The twin cohort displayed distinctive pathway enrichment based on sleep duration differences. Short sleep was associated with up-regulation of genes involved in transcription, ribosome, translation and oxidative phosphorylation. Unexpectedly, genes down-regulated in short sleep twins were highly enriched in immuno-inflammatory pathways such interleukin signaling and leukocyte activation, as well as developmental programs, coagulation cascade, and cell adhesion. Objectively assessed habitual sleep duration in monozygotic twin pairs appears to be associated with distinct patterns of differential gene expression and pathway enrichment. By accounting for familial confounding and measuring real life sleep duration, our study shows the transcriptomic effects of short sleep on dysregulated immune response and provides a potential link between sleep deprivation and adverse metabolic, cardiovascular and inflammatory outcomes.

Dataset Information

Clinical Discordance in Monozygotic Twins With Autism Spectrum Disorder.

Publications

Clinical Discordance in Monozygotic Twins With Autism Spectrum Disorder.

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