Mitochondrial roles in disease: a box full of surprises

doi:10.15252/emmm.201505350

. 2015 Oct;7(10):1245-7.

doi: 10.15252/emmm.201505350.

Mitochondrial roles in disease: a box full of surprises

Anu Suomalainen¹

Affiliations

Affiliation

¹ Research Programs Unit, Molecular Neurology, Helsinki, Finland Neuroscience Center, University of Helsinki, Helsinki, Finland Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.

PMID: 26194910
PMCID: PMC4604678
DOI: 10.15252/emmm.201505350

Mitochondrial roles in disease: a box full of surprises

Anu Suomalainen. EMBO Mol Med. 2015 Oct.

. 2015 Oct;7(10):1245-7.

doi: 10.15252/emmm.201505350.

Author

Anu Suomalainen¹

Affiliation

¹ Research Programs Unit, Molecular Neurology, Helsinki, Finland Neuroscience Center, University of Helsinki, Helsinki, Finland Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.

PMID: 26194910
PMCID: PMC4604678
DOI: 10.15252/emmm.201505350

Abstract

This commentary inaugurates a new review series in EMBO Molecular Medicine focused on mitochondrial diseases. This area of medicine, which actually encompasses most disease areas, has long since come of age and is now positioned for the next leap toward the development of effective therapies. The aims of the review series are to offer a comprehensive overview of this exciting area of medicine and research and to provide timely discussions for clinicians and investigators on the new discoveries elucidating how mitochondrial metabolism contributes to an expanding group of complex, heterogeneous, and difficult-to-tackle diseases.

PubMed Disclaimer

Cited by

MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans.
Gal A, Balicza P, Weaver D, Naghdi S, Joseph SK, Várnai P, Gyuris T, Horváth A, Nagy L, Seifert EL, Molnar MJ, Hajnóczky G. Gal A, et al. EMBO Mol Med. 2017 Jul;9(7):967-984. doi: 10.15252/emmm.201607058. EMBO Mol Med. 2017. PMID: 28554942 Free PMC article.
Challenges and opportunities to bridge translational to clinical research for personalized mitochondrial medicine.
Gropman AL, Uittenbogaard MN, Chiaramello AE. Gropman AL, et al. Neurotherapeutics. 2024 Jan;21(1):e00311. doi: 10.1016/j.neurot.2023.e00311. Epub 2024 Jan 19. Neurotherapeutics. 2024. PMID: 38266483 Free PMC article. Review.
Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants.
Liu L, Su R, Huang P, Li X, Xiong J, Xiao Y, Mao D, Liu L. Liu L, et al. Front Genet. 2022 Aug 11;13:947886. doi: 10.3389/fgene.2022.947886. eCollection 2022. Front Genet. 2022. PMID: 36035138 Free PMC article.
Clinical Insights into Mitochondrial Neurodevelopmental and Neurodegenerative Disorders: Their Biosignatures from Mass Spectrometry-Based Metabolomics.
Li H, Uittenbogaard M, Hao L, Chiaramello A. Li H, et al. Metabolites. 2021 Apr 10;11(4):233. doi: 10.3390/metabo11040233. Metabolites. 2021. PMID: 33920115 Free PMC article. Review.
Signaling and Regulation of the Mitochondrial Unfolded Protein Response.
Naresh NU, Haynes CM. Naresh NU, et al. Cold Spring Harb Perspect Biol. 2019 Jun 3;11(6):a033944. doi: 10.1101/cshperspect.a033944. Cold Spring Harb Perspect Biol. 2019. PMID: 30617048 Free PMC article. Review.

See all "Cited by" articles

References

1. Ahlqvist K, Hämäläinen RH, Yatsuga S, Uutela M, Terzioglu M, Götz A, Forsström S, Salven P, Angers-Loustau A, Kopra OH, et al. Somatic progenitor cell vulnerability to mitochondrial DNA mutagenesis underlies progeroid phenotypes in Polg mutator mice. Cell Metab. 2012;15:100–109. - PubMed
1. Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Péquignot E, Munnich A, Rötig A. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet. 1995;11:144–149. - PubMed
1. Friedman JR, Lackner LL, West M, DiBenedetto JR, Nunnari J, Voeltz GK. ER tubules mark sites of mitochondrial division. Science. 2011;334:358–362. - PMC - PubMed
1. Hämäläinen RH, Ahlqvist KJ, Ellonen P, Lepistö M, Logan A, Otonkoski T, Murphy MP, Suomalainen A. mtDNA mutagenesis disrupts pluripotent stem cell function by altering redox signaling. Cell Rep. 2015;11:1614–1624. - PMC - PubMed
1. Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 1988;331:717–719. - PubMed

Publication types

Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
Other Literature Sources
- scite Smart Citations
Medical
- MedlinePlus Health Information

[1] Ahlqvist K, Hämäläinen RH, Yatsuga S, Uutela M, Terzioglu M, Götz A, Forsström S, Salven P, Angers-Loustau A, Kopra OH, et al. Somatic progenitor cell vulnerability to mitochondrial DNA mutagenesis underlies progeroid phenotypes in Polg mutator mice. Cell Metab. 2012;15:100–109. - PubMed

[2] Ahlqvist K, Hämäläinen RH, Yatsuga S, Uutela M, Terzioglu M, Götz A, Forsström S, Salven P, Angers-Loustau A, Kopra OH, et al. Somatic progenitor cell vulnerability to mitochondrial DNA mutagenesis underlies progeroid phenotypes in Polg mutator mice. Cell Metab. 2012;15:100–109. - PubMed

[3] Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Péquignot E, Munnich A, Rötig A. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet. 1995;11:144–149. - PubMed

[4] Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Péquignot E, Munnich A, Rötig A. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet. 1995;11:144–149. - PubMed

[5] Friedman JR, Lackner LL, West M, DiBenedetto JR, Nunnari J, Voeltz GK. ER tubules mark sites of mitochondrial division. Science. 2011;334:358–362. - PMC - PubMed

[6] Friedman JR, Lackner LL, West M, DiBenedetto JR, Nunnari J, Voeltz GK. ER tubules mark sites of mitochondrial division. Science. 2011;334:358–362. - PMC - PubMed

[7] Hämäläinen RH, Ahlqvist KJ, Ellonen P, Lepistö M, Logan A, Otonkoski T, Murphy MP, Suomalainen A. mtDNA mutagenesis disrupts pluripotent stem cell function by altering redox signaling. Cell Rep. 2015;11:1614–1624. - PMC - PubMed

[8] Hämäläinen RH, Ahlqvist KJ, Ellonen P, Lepistö M, Logan A, Otonkoski T, Murphy MP, Suomalainen A. mtDNA mutagenesis disrupts pluripotent stem cell function by altering redox signaling. Cell Rep. 2015;11:1614–1624. - PMC - PubMed

[9] Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 1988;331:717–719. - PubMed

[10] Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 1988;331:717–719. - PubMed

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Mitochondrial roles in disease: a box full of surprises

Affiliation

Mitochondrial roles in disease: a box full of surprises

Author

Affiliation

Abstract

Similar articles

Cited by

References

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Abstract

Similar articles

Cited by

References

Publication types

MeSH terms

Related information

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical