Answer to Gerber et al. "Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy"

Anikó Gál; Janine H Santos; Mária Judit Molnár; György Hajnóczky

doi:10.15252/emmm.202216251

Answer to Gerber et al. "Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy"

EMBO Mol Med. 2023 Aug 7;15(8):e16251. doi: 10.15252/emmm.202216251. Epub 2023 Jul 11.

Authors

Anikó Gál¹, Janine H Santos², Mária Judit Molnár¹, György Hajnóczky³

Affiliations

¹ Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
² Mechanistic Toxicology Branch, Division of the National Toxicology Program (DNTP), National Institute of Environmental Health Sciences (NIEHS), National Institutes of Health (NIH), Research Triangle Park, NC, USA.
³ MitoCare Center for Mitochondrial Imaging Research and Diagnostics, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, PA, USA.

Abstract

Gal et al address the issues raised by Gerber et al and reiterate that patients in their study showed decreased Misato homolog 1 (MSTO1) mRNA and protein levels, but also confirm finding of Gerber et al that the mutation is in MSTO2p pseudogene. Whether MSTO2p variant contributes to the observed decrease in MSTO1 levels in patients remains unclear.

Publication types

Letter
Comment

MeSH terms

Cell Cycle Proteins / genetics
Cytoskeletal Proteins* / genetics
Humans
Mutation
Optic Atrophies, Hereditary*
Pedigree

Substances

Cytoskeletal Proteins
Cell Cycle Proteins
MSTO1 protein, human