- Genetic and phenotypic heterogeneity in early neurodevelopmental
- Developmental Disruption of Mef2c in Medial Ganglionic
Genetic and phenotypic heterogeneity in early neurodevelopmental
traits in the Norwegian Mother, Father and Child Cohort Study.
- Autism and various neurodevelopmental conditions often co-occur with
their symptoms at sub-diagnostic threshold levels.
- Shared genetic liability may explain the overlapping traits.
- The study used item-level data from the Norwegian Mother, Father,
and Child Cohort Study to examine the phenotypic factor structure and
genetic architecture of neurodevelopmental traits at age 3.
- 11 latent factors were identified at the phenotypic level, showing
associations with autism and other neurodevelopmental conditions.
and/or schizophrenia.
- Genetic correlations were found between specific traits and autism,
ADHD, and schizophrenia.
- Little evidence of common genetic liability across all
neurodevelopmental traits was found, but more so for specific areas
like social and communication traits.
- The findings highlight the etiological complexity and genetic
heterogeneity of neurodevelopmental traits in early childhood.
- Understanding these associations and genetic factors could help in
identifying shared and differentiating factors in neurodevelopmental
traits and their relation to autism and other conditions, with
implications for clinical screening tools and programs.
Developmental Disruption of Mef2c in Medial Ganglionic
Eminence-derived cortical inhibitory interneurons impairs cellular and
circuit function.
neuronsにおける1コピーの欠損または両方の欠損を持つマウスは、NDDsに関連するさまざまな行動表現現象を示す。
- MEF2Cは、大部分のcortical GABAergic inhibitory
neuronsで発現しているが、その細胞型での機能はほとんどわかっていない。
- MEF2Cは、特にPV-INsのようなcortical GABAergic interneuronsの発達に重要である。
- MEF2Cの早期の機能喪失は、GABAergic interneuronsの機能の不全を仲介し、cortical
activityとNDDsに関連する行動表現現象の変化をもたらす。
