Mitochondrial Function in 22q11 Deletion Syndrome

Emily B Warren; Eric M Morrow

doi:10.1016/j.neuron.2019.05.052

Mitochondrial Function in 22q11 Deletion Syndrome

Neuron. 2019 Jun 19;102(6):1089-1091. doi: 10.1016/j.neuron.2019.05.052.

Authors

Emily B Warren¹, Eric M Morrow²

Affiliations

¹ Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI, USA; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI, USA.
² Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI, USA; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI, USA; Hassenfeld Child Health Innovation Institute, Brown University, Providence, RI, USA. Electronic address: eric_morrow@brown.edu.

PMID: 31220439
DOI: 10.1016/j.neuron.2019.05.052

Abstract

Copy number variant disorders arise from altering the dosage of multiple contiguous genes. In this issue of Neuron, Fernandez et al. (2019) identify haploinsufficiency of mitochondrial Txnrd2 as an important contributor to the hypo-cortico-cortical connectivity of 22q11 deletion syndrome.

Keywords: 22q11 deletion; CNV; ROS; Txnrd2; copy number variant; cortico-cortical connectivity; mitochondria; reactive oxygen species.

Publication types

Comment

MeSH terms

22q11 Deletion Syndrome*
Cognitive Dysfunction*
DNA Copy Number Variations
DiGeorge Syndrome*
Humans
Mitochondria