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An autosomal locus predisposing to deletions of mitochondrial DNA

Anu Suomalainen
Jyrki Kaukonen
Leena Peltonen
Research01 Feb 1995
Nature Genetics

Volume: 9, P: 146-151
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals

Anja Rovio
Valeria Tiranti
Howard T Jacobs
Research30 Mar 1999
European Journal of Human Genetics

Volume: 7, P: 140-146
Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity

POLG mutations impair mitochondrial DNA replication and cause diverse mitochondrial diseases. Here, the authors show that structural differences in the POLγB subunit between humans and mice modulate mutation severity.

Samantha Corrà
Alessandro Zuppardo
Carlo Viscomi
ResearchOpen Access23 May 2025
Nature Communications

Volume: 16, P: 1-18
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

Johannes N. Spelbrink
Fang-Yuan Li
Catharina Larsson
Research01 Jul 2001
Nature Genetics

Volume: 28, P: 223-231
Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP Syndrome

Päivi Mäkelä-bengs
Anu Suomalainen
Helena Pihko
Research01 May 1995
Pediatric Research

Volume: 37, P: 634-639
Congenital Hypoplastic Anemia, Diabetes, and Severe Renal Tubular Dysfunction Associated with a Mitochondrial DNA Deletion

Anna Majander
Anu Suomalainen
Helena Pihko
Research01 Oct 1991
Pediatric Research

Volume: 30, P: 327-330
Author Correction: Defects in mtDNA replication challenge nuclear genome stability through nucleotide depletion and provide a unifying mechanism for mouse progerias

Riikka H. Hämäläinen
Juan C. Landoni
Anu Suomalainen
Amendments and Corrections10 Aug 2020
Nature Metabolism

Volume: 2, P: 793
Overactive mitochondrial DNA replication disrupts perinatal cardiac maturation

High mitochondrial DNA content is reported to be beneficial for health. However here, Landoni et al. show that boosting mtDNA replication disrupts cardiac maturation and induces the mitochondrial integrated stress response, ferroptosis and neonatal heart failure.

Juan C. Landoni
Semin Erkul
Anu Suomalainen
ResearchOpen Access14 Sept 2024
Nature Communications

Volume: 15, P: 1-11
SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

The pathomechanism of succinyl-CoA ligase (SCL) deficiency, a hereditary mitochondrial disease, is not fully understood. Here, the authors show that increased succinyl-CoA levels contribute to SCL pathology by causing global protein hyper-succinylation.

Philipp Gut
Sanna Matilainen
Eric Verdin
ResearchOpen Access23 Nov 2020
Nature Communications

Volume: 11, P: 1-14
Reply to: Proofreading deficiency in mitochondrial DNA polymerase does not affect total dNTP pools in mouse embryos

Riikka H. Hämäläinen
Juan C. Landoni
Anu Suomalainen
Research10 Aug 2020
Nature Metabolism

Volume: 2, P: 676-677
Mitochondrial DNA can be inherited from fathers, not just mothers

A tenet of elementary biology is that mitochondria — the cell’s powerhouses — and their DNA are inherited exclusively from mothers. A provocative study suggests that fathers also occasionally contribute.

Thomas G. McWilliams
Anu Suomalainen
News & Views14 Jan 2019
Nature

Volume: 565, P: 296-297
Nutrient intakes and metabolomic profiles associated with animal source energy percentage in children’s diets

Topi Hovinen
Elina Kettunen
Liisa Korkalo
ResearchOpen Access27 May 2025
Scientific Reports

Volume: 15, P: 1-12
Asymmetric rejuvenation

Organelles called mitochondria are asymmetrically apportioned to the daughters of dividing stem cells according to mitochondrial age. This finding sheds light on the mechanisms underlying asymmetric stem-cell division.

Anu Suomalainen
News & Views20 May 2015
Nature

Volume: 521, P: 296-298
Ancestral allele of DNA polymerase gamma modifies antiviral tolerance

The POLG1 mutation p.W748S, which is associated with mitochondrial recessive ataxia syndrome, dampens innate immune responses by compromising mtDNA replisome stability, and this explains why a viral infection can trigger the development of the disease and contribute to its variable clinical manifestation.

Yilin Kang
Jussi Hepojoki
Anu Suomalainen
ResearchOpen Access03 Apr 2024
Nature

Volume: 628, P: 844-853
Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy

Astrocytes in the brain are metabolically dynamic. Here, Ignatenko, Chilov and colleagues delete mitochondrial DNA (mtDNA) in a cell type specific manner, and show that inactivation of mtDNA helicase Twinkle in astrocytes leads to spongiotic encephalopathy.

Olesia Ignatenko
Dmitri Chilov
Anu Suomalainen
ResearchOpen Access04 Jan 2018
Nature Communications

Volume: 9, P: 1-12
Infantile Onset Spinocerebellar Ataxia Represents an Allelic Disease Distinct from Other Hereditary Ataxias

Kaisu Nikali
Tuula Koskinen
Leena Peltonen
Research01 Nov 1994
Pediatric Research

Volume: 36, P: 607-611
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders

Anna H Hakonen
Guido Davidzon
Anu Suomalainen
Research11 Apr 2007
European Journal of Human Genetics

Volume: 15, P: 779-783
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion

Sanna Matilainen
Pirjo Isohanni
Anu Suomalainen
Research02 Jul 2014
European Journal of Human Genetics

Volume: 23, P: 325-330
MtDNA mutagenesis impairs elimination of mitochondria during erythroid maturation leading to enhanced erythrocyte destruction

Accumulation of mitochondrial DNA (mtDNA) mutations is linked to severe anaemia by an unknown mechanism. Here the authors show that excessive mtDNA mutations impair mitochondrial expulsion during erythropoiesis leading to augmented erythrocyte clearance and anaemia in mice and humans.

K.J. Ahlqvist
S. Leoncini
A. Suomalainen
Research09 Mar 2015
Nature Communications

Volume: 6, P: 1-11
TFPa/HADHA is required for fatty acid beta-oxidation and cardiolipin re-modeling in human cardiomyocytes

Mutations in the gene HADHA result in mitochondrial tri-functional protein (MTP) deficiency and can result in sudden infant death syndrome for which there is no treatment. Here the authors show that the MTP deficient pathology in human cardiomyocytes leads to an abnormal cardiolipin pattern and suggests that cardiolipin affecting compounds may serve as a potential therapy.

Jason W. Miklas
Elisa Clark
Hannele Ruohola-Baker
ResearchOpen Access11 Oct 2019
Nature Communications

Volume: 10, P: 1-21
A Juvenile Case of MELAS with T3271C Mitochondrial DNA Mutation

Laura Stenqvist
Anders Paetau
Helena Pihko
Research01 Aug 2005
Pediatric Research

Volume: 58, P: 258-262
Author Correction: TFPa/HADHA is required for fatty acid beta-oxidation and cardiolipin re-modeling in human cardiomyocytes

Jason W. Miklas
Elisa Clark
Hannele Ruohola-Baker
Amendments and CorrectionsOpen Access08 May 2020
Nature Communications

Volume: 11, P: 1
New treatments for mitochondrial disease—no time to drop our standards

Despite recent advances in our understanding of the pathophysiology of mitochondrial disease, beneficial treatments for these disorders are lacking. In this Perspectives article, Pfeffer et al. retrospectively review data from clinical trials in mitochondrial disease, and find that many problems arise from publication bias and poor trial design. After discussing these issues, the authors make recommendations for the design of future treatment trials in mitochondrial diseases.

Gerald Pfeffer
Rita Horvath
Patrick F. Chinnery
Reviews02 Jul 2013
Nature Reviews Neurology

Volume: 9, P: 474-481
RNA modification landscape of the human mitochondrial tRNA^Lys regulates protein synthesis

Mutations in mitochondrially-encoded tRNA genes can lead to mitochondrial disorders. Here the authors use next generation RNA sequencing to reveal the role of a N1 -methyladenosine modification in tRNALys MERR patients for translation elongation and the stability of selected nascent chains.

Uwe Richter
Molly E. Evans
Brendan J. Battersby
ResearchOpen Access27 Sept 2018
Nature Communications

Volume: 9, P: 1-11
Defects in mtDNA replication challenge nuclear genome stability through nucleotide depletion and provide a unifying mechanism for mouse progerias

Increased mitochondrial DNA (mtDNA) replication frequency is shown to lead to defects in maintenance of the nuclear genome due to reallocation of nucleotides to mitochondria, challenging the proposed direct role of mtDNA mutations as drivers of cellular and organismal ageing in mammalian progerias.

Riikka H. Hämäläinen
Juan C. Landoni
Anu Suomalainen
Research07 Oct 2019
Nature Metabolism

Volume: 1, P: 958-965
Mitochondrial diseases: the contribution of organelle stress responses to pathology

Mitochondrial disorders encompass a broad range of pathologies, which manifest in different tissues, with variable age of onset and symptoms. Recent findings suggest that mitochondrial stress responses, which are activated by defects in mitochondrial genome maintenance and expression, contribute to cell and systemic dysfunction, and could explain the phenotypic variability of mitochondrial disorders.

Anu Suomalainen
Brendan J. Battersby
Reviews09 Aug 2017
Nature Reviews Molecular Cell Biology

Volume: 19, P: 77-92
A serine/threonine kinase gene defective in Peutz–Jeghers syndrome

Akseli Hemminki
David Markie
Lauri A. Aaltonen
Research08 Jan 1998
Nature

Volume: 391, P: 184-187
IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder

Anna Kuukasjärvi
Juan C. Landoni
Anu Suomalainen
ResearchOpen Access26 Jul 2021
European Journal of Human Genetics

Volume: 29, P: 1833-1837
Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy

Catalina Vasilescu
Pirjo Isohanni
Christopher J Carroll
Research21 Dec 2016
European Journal of Human Genetics

Volume: 25, P: 366-370
Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ^(UCN) mutation

Alexandra Götz
Pirjo Isohanni
Anu Suomalainen
Research27 Mar 2012
Pediatric Research

Volume: 72, P: 90-94
Recessive TMOD1 mutation causes childhood cardiomyopathy

Genomic, cellular, and biochemical analyses reveal that the homozygous p.R189W variant in TMOD1 leads to dysregulation of thin filament lengths in the heart and causes childhood-onset dilated and restrictive cardiomyopathy in three patients.

Catalina Vasilescu
Mert Colpan
Anu Suomalainen
ResearchOpen Access02 Jan 2024
Communications Biology

Volume: 7, P: 1-13
Quantification of Mitochondrial DNA Carrying the tRNA₈₃₄₄^Lys Point Mutation in Myoclonus Epilepsy and Ragged-Red-Fiber Disease

Anu Suomalainen
Paul Kollmann
Ann-Christine Syvänen
Research01 Jan 1993
European Journal of Human Genetics

Volume: 1, P: 88-95
New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies

Tiina Ojala
Padmini Polinati
Tiina Tyni
Research13 Jul 2012
Pediatric Research

Volume: 72, P: 432-437
Erratum: Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion

Sanna Matilainen
Pirjo Isohanni
Anu Suomalainen
Amendments and Corrections09 Feb 2017
European Journal of Human Genetics

Volume: 25, P: 393-0
Mitochondrial diseases

Mitochondrial diseases are a group of genetic disorders that are characterized by mutations in nuclear or mitochondrial DNA. This Primer discusses the mechanisms underlying the development of mitochondrial diseases, in addition to the diagnosis, prevention and management of these disorders.

Gráinne S. Gorman
Patrick F. Chinnery
Douglass M. Turnbull
Reviews20 Oct 2016
Nature Reviews Disease Primers

Volume: 2, P: 1-22
Disruption of the mouse Shmt2 gene confers embryonic anaemia via foetal liver-specific metabolomic disorders

Haruna Tani
Takayuki Mito
Jun-Ichi Hayashi
ResearchOpen Access05 Nov 2019
Scientific Reports

Volume: 9, P: 1-11
Genetic etiology of progressive pediatric neurological disorders

Juho Aaltio
Anna Etula
Anu Suomalainen
ResearchOpen Access10 Aug 2023
Pediatric Research

Volume: 95, P: 102-111
Maternal early pregnancy obesity and related pregnancy and pre-pregnancy disorders: associations with child developmental milestones in the prospective PREDO Study

Polina Girchenko
Soile Tuovinen
Katri Räikkönen
Research23 Apr 2018
International Journal of Obesity

Volume: 42, P: 995-1007
Downregulation of SRF–FOS–JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas

N Raimundo
S Vanharanta
A Suomalainen
Research19 Jan 2009
Oncogene

Volume: 28, P: 1261-1273
Neonatal regulatory behavior problems are predicted by maternal early pregnancy overweight and obesity: findings from the prospective PREDO Study

Polina Girchenko
Marius Lahti-Pulkkinen
Katri Räikkönen
Research10 Oct 2018
Pediatric Research

Volume: 84, P: 875-881

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