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mTOR'ing across the Cortex by Chopping the Cilia.

Alessia Di Nardo¹, Mustafa Sahin¹

¹F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

|July 13, 2018

Summary

Somatic mutations in the MTOR gene cause focal brain malformations. A new study reveals defective autophagy-dependent ciliogenesis and Wnt signaling disrupt neuronal migration and cortical development.

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Area of Science:

Neuroscience
Genetics
Developmental Biology

Background:

Focal malformations of cortical development are linked to somatic mutations.
The MTOR gene is implicated in these developmental disorders.

Purpose of the Study:

To elucidate the underlying molecular mechanisms of MTOR-related cortical malformations.
To investigate the role of autophagy, ciliogenesis, and Wnt signaling in neuronal development.

Main Methods:

Analysis of somatic MTOR mutations in affected individuals.
Investigating the impact of these mutations on cellular pathways.
Examining neuronal migration and cortical lamination in relevant models.

Main Results:

Related Experiment Videos

Somatic MTOR mutations impair autophagy-dependent ciliogenesis.

Defects in ciliogenesis disrupt Wnt signaling pathways.

These disruptions lead to aberrant neuronal migration and cortical lamination.

Conclusions:

Autophagy-dependent ciliogenesis and Wnt signaling are critical for proper brain development.
MTOR mutations disrupt these pathways, causing focal malformations of cortical development.