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Related Concept Videos

Intellectual Disability01:29

Intellectual Disability

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Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
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Actin is a family of globular proteins that are highly abundant in eukaryotic cells. It makes up approximately 1-5% of total cell protein concentration. Actin monomers polymerize to form a complex network of polarized filaments, the actin cytoskeleton, that plays a crucial role in many cellular processes, including cell motility, division, endocytosis, and metastasis of cancer cells.
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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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Actin Filament Depolymerization01:19

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Actin filaments (F-actin) are composed of actin subunits. The dissociation of actin monomers can occur from either end of F-actin. The rate of dissociation is faster from the minus-end or the pointed end, where the actin subunits exist with a bound ADP, together known as ADP-actin. The depolymerization of F-actin is aided by proteins, including the actin-depolymerizing factor (ADF) and cofilin family of proteins, gelsolin, and glia maturation factor (GMF).
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Filopodia are thin, actin-rich cellular protrusions that play an important role in many fundamental cellular functions. They vary in their occurrence, length, and positioning in different cell types, suggesting their diverse roles.
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The intermediate filaments are an essential component of the cytoskeleton. Presently six types of intermediate filament have been identified. Type I and II are acidic and basic keratin proteins. Type III is of mesodermal origin and comprises four proteins: vimentin, desmin, glial fibrillary acidic protein (GFAP), and peripherin. Vimentin is commonly found in mesenchymal cells, desmin in muscle cells, GFAP in astrocytes, while peripherin is found in peripheral nervous system neurons (PNS). Type...
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Related Experiment Video

Updated: Jul 16, 2025

Aip1p Dynamics Are Altered by the R256H Mutation in Actin
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Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization.

Vittoria Mariano1, Alexandros K Kanellopoulos2, Carlotta Ricci3

  • 1Department of Fundamental Neurosciences, University of Lausanne, Lausanne, Switzerland; Department of Human Genetics, KU Leuven, Belgium.

Biological Psychiatry
|September 13, 2023
PubMed
Summary
This summary is machine-generated.

Two CYFIP1 gene variants cause intellectual disability and autism spectrum disorder by disrupting actin polymerization crucial for brain development. This study highlights CYFIP1

Keywords:
Actin remodelingAutism spectrum disorderCYFIP1DrosophilaMotor impairmentSocial deficits

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Area of Science:

  • Genetics and Neurodevelopmental Disorders
  • Molecular and Cellular Biology
  • Biochemistry

Background:

  • 15q11.2 deletions/duplications are associated with neurodevelopmental disorders.
  • Cytoplasmic FMR1 interacting protein 1 (CYFIP1) dysfunction is implicated in 15q11.2 syndrome phenotypes.
  • CYFIP1's role in neuronal development and actin polymerization is established, but the impact of its variants on neurodevelopmental disorders is less understood.

Purpose of the Study:

  • Investigate the impact of biallelic missense mutations in the CYFIP1 gene on neurodevelopmental disorders.
  • Determine the molecular mechanisms underlying the clinical phenotypes associated with CYFIP1 variants.
  • Explore the in vivo effects of CYFIP1 mutations using a Drosophila model.

Main Methods:

  • Identified biallelic missense mutations in CYFIP1 in two probands with intellectual disability, autism spectrum disorder, and spastic tetraparesis.
  • Conducted cellular analyses using skin fibroblasts to assess CYFIP1 variant effects on actin polymerization.
  • Generated Drosophila knockin mutants to study the in vivo consequences of CYFIP1 mutations.

Main Results:

  • The identified CYFIP1 missense variants impair interactions within the wave regulatory complex, leading to deficits in actin polymerization.
  • Fibroblast analyses confirmed reduced actin polymerization in cells with CYFIP1 variants.
  • Drosophila models with CYFIP1 mutations displayed abnormal brain morphology, F-actin loss, and behavioral deficits mirroring human symptoms.

Conclusions:

  • The two CYFIP1 variants identified contribute to the probands' clinical phenotypes.
  • These phenotypes are linked to impaired actin-mediated brain development processes.
  • CYFIP1 variants represent a potential genetic cause for intellectual disability and autism spectrum disorder.