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WDR45, one gene associated with multiple neurodevelopmental disorders.

Yingying Cong1, Vincent So1, Marina A J Tijssen2,3

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Summary

Genetic variants in the WDR45 gene cause neurodegenerative disorders by affecting autophagy and iron homeostasis. This review explores WDR45 functions and disease links, focusing on brain iron accumulation as a potential cause.

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Autophagybeta-propeller protein-associated neurodegenerationbrain iron accumulationendoplasmic reticulummitochondria

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Area of Science:

  • Genetics and Neurobiology
  • Molecular and Cellular Biology

Background:

  • The WDR45 gene, located on the X-chromosome, encodes the WD repeat-containing protein WDR45/WIPI4.
  • Variants in WDR45 are associated with several neurodegenerative disorders, including ß-propeller protein associated neurodegeneration (BPAN), Rett-like syndrome (RLS), intellectual disability (ID), and various epileptic encephalopathies (e.g., developmental and epileptic encephalopathy [DEE], early-onset epileptic encephalopathy [EOEE], West syndrome).
  • The precise function of WDR45 remains largely unknown, but its involvement in autophagy, mitochondrial function, endoplasmic reticulum (ER) stress, and iron homeostasis is suggested.

Purpose of the Study:

  • To review and summarize current knowledge on the cellular and physiological functions of WDR45.
  • To highlight how genetic variants in WDR45 contribute to the pathophysiology of associated neurodegenerative disorders.
  • To critically discuss the potential role of brain iron accumulation as a primary cause of these WDR45-associated diseases.

Main Methods:

  • Literature review synthesizing existing research on WDR45 gene variants, protein function, and associated diseases.
  • Analysis of the connection between clinical manifestations and potential cellular origins of malfunction.
  • Critical discussion of the role of iron accumulation in the pathogenesis of WDR45-related disorders.

Main Results:

  • WDR45 variants can lead to defects in macroautophagy/autophagy, mitochondrial dysfunction, ER stress, and imbalanced iron homeostasis.
  • These cellular dysfunctions are linked to a spectrum of neurodevelopmental and neurodegenerative conditions.
  • Brain iron accumulation is a prominent shared feature across these disorders, prompting investigation into its causal role.

Conclusions:

  • WDR45 plays a crucial role in cellular processes, and its dysfunction due to genetic variants underlies several severe neurological disorders.
  • Understanding WDR45's function is key to elucidating the pathophysiology of these conditions.
  • Further research is needed to confirm whether brain iron accumulation is the primary driver of WDR45-associated neurodegeneration.