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Endoplasmic reticulum and Golgi stress in microcephaly

Research output: Contribution to journalReview article

Sandrine Passemard, Franck Perez, Pierre Gressens, Vincent El Ghouzzi

Original languageEnglish
Pages (from-to)369-384
Number of pages16
JournalCell Stress
Volume3
Issue number12
DOIs
Publication statusPublished - 30 Oct 2019

Bibliographical note

Copyright: © 2019 Passemard et al.

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Abstract

Microcephaly is a neurodevelopmental condition characterized by a small brain size associated with intellectual deficiency in most cases and is one of the most frequent clinical sign encountered in neurodevelopmental disorders. It can result from a wide range of environmental insults occurring during pregnancy or postnatally, as well as from various genetic causes and represents a highly heterogeneous condition. However, several lines of evidence highlight a compromised mode of division of the cortical precursor cells during neurogenesis, affecting neural commitment or survival as one of the common mechanisms leading to a limited production of neurons and associated with the most severe forms of congenital microcephaly. In this context, the emergence of the endoplasmic reticulum (ER) and the Golgi apparatus as key guardians of cellular homeostasis, especially through the regulation of proteostasis, has raised the hypothesis that pathological ER and/or Golgi stress could contribute significantly to cortical impairments eliciting microcephaly. In this review, we discuss recent findings implicating ER and Golgi stress responses in early brain development and provide an overview of microcephaly-associated genes involved in these pathways.

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