Mitochondrial Dysfunction in Fragile-X Syndrome: Plugging the Leak May Save the Ship

Divakar S Mithal; Navdeep S Chandel

doi:10.1016/j.molcel.2020.10.002

Mitochondrial Dysfunction in Fragile-X Syndrome: Plugging the Leak May Save the Ship

Mol Cell. 2020 Nov 5;80(3):381-383. doi: 10.1016/j.molcel.2020.10.002.

Authors

Divakar S Mithal¹, Navdeep S Chandel²

Affiliations

¹ Department of Neurology, Ann and Robert H. Lurie Children's Hospital, Chicago, IL 60611, USA; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
² Department of Medicine, Biochemistry and Molecular Genetics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA. Electronic address: nav@northwestern.edu.

PMID: 33157013
DOI: 10.1016/j.molcel.2020.10.002

Abstract

Recent work by Licznerski et al. suggests that mutant FMRP linked to Fragile-X syndrome elevates the inner mitochondrial membrane proton leak, leading to increased metabolism and changes in protein synthesis that trigger impaired synaptic maturation and autistic behaviors.

Publication types

Comment

MeSH terms

Adenosine Triphosphate
Fragile X Mental Retardation Protein / genetics
Fragile X Syndrome* / genetics
Humans
Mitochondria / genetics
Ships

Substances

Fragile X Mental Retardation Protein
Adenosine Triphosphate