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Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA depletion syndrome.
Munro B, Hines D, Mueller JS, Horvath R. Munro B, et al. Hum Mol Genet. 2025 May 17;34(11):967-977. doi: 10.1093/hmg/ddaf047. Hum Mol Genet. 2025. PMID: 40211788 Free PMC article.
Mitochondrial DNA (mtDNA) depletion syndromes (MDDS) are rare, clinically heterogeneous mitochondrial disorders resulting from nuclear variants in genes of the mitochondrial DNA replication or maintenance machinery. ...To investiga …
Mitochondrial DNA (mtDNA) depletion syndromes (MDDS) are rare, clinically heterogeneous mitochondrial dis …
Novel RRM2B Mutation and Severe Mitochondrial DNA Depletion: Report of 2 Cases and Review of the Literature.
Kropach N, Shkalim-Zemer V, Orenstein N, Scheuerman O, Straussberg R. Kropach N, et al. Neuropediatrics. 2017 Dec;48(6):456-462. doi: 10.1055/s-0037-1601867. Epub 2017 May 8. Neuropediatrics. 2017. PMID: 28482374 Review.
Purpose To describe the clinical presentation and implications of mitochondrial DNA depletion disorder of two siblings with early fatal encephalomyopathy and a novel mutation in the RRM2B gene. ...Conclusion The combination of neonatal hypotonia, devel …
Purpose To describe the clinical presentation and implications of mitochondrial DNA depletion disorder of two siblings …
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Keshavan N, Abdenur J, Anderson G, Assouline Z, Barcia G, Bouhikbar L, Chakrapani A, Cleary M, Cohen MC, Feillet F, Fratter C, Hauser N, Jacques T, Lam A, McCullagh H, Phadke R, Rötig A, Sharrard M, Simon M, Smith C, Sommerville EW, Taylor RW, Yue WW, Rahman S. Keshavan N, et al. Genet Med. 2020 Jan;22(1):199-209. doi: 10.1038/s41436-019-0613-z. Epub 2019 Aug 29. Genet Med. 2020. PMID: 31462754 Free article.
PURPOSE: Mitochondrial DNA (mtDNA) depletion syndrome (MDDS) encompasses a group of genetic disorders of mtDNA maintenance. Mutation of RRM2B is an uncommon cause of infantile-onset encephalomyopathic MDDS. Here we describe the natural history o …
PURPOSE: Mitochondrial DNA (mtDNA) depletion syndrome (MDDS) encompasses a group of genetic disorders of mtDNA m …
Short telomeres in mitochondrial DNA depletion disorders.
Dille Y, Rampakakis E, Aubert G, Dassi C, Mannherz W, Berrahmoune S, Srour M, Buhas D, Agarwal S, Myers KA. Dille Y, et al. Mitochondrion. 2026 May;88:102131. doi: 10.1016/j.mito.2026.102131. Epub 2026 Feb 10. Mitochondrion. 2026. PMID: 41679577 Free article.
Mitochondrial DNA (mtDNA) depletion disorders (MDDs) are rare, genetically diverse conditions marked by a significant reduction in mtDNA, primarily affecting energy-demanding tissues such as muscle, liver, and brain, sometimes leading to catastrophic multisys …
Mitochondrial DNA (mtDNA) depletion disorders (MDDs) are rare, genetically diverse conditions marked by a significant r …
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.
Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. Penque BA, et al. Eur J Med Genet. 2019 Nov;62(11):103574. doi: 10.1016/j.ejmg.2018.11.008. Epub 2018 Nov 12. Eur J Med Genet. 2019. PMID: 30439532
Mutations in this gene have been associated with a lethal mitochondrial depletion syndrome. Here we present the case of an infant with a novel homozygous p.Asn221Ser mutation in RRM2B who developed hypotonia, failure to thrive, sensorineural hearing lo …
Mutations in this gene have been associated with a lethal mitochondrial depletion syndrome. Here we present the case of …
A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool.
di Punzio G, Gilberti M, Baruffini E, Lodi T, Donnini C, Dallabona C. di Punzio G, et al. Int J Mol Sci. 2021 Nov 12;22(22):12223. doi: 10.3390/ijms222212223. Int J Mol Sci. 2021. PMID: 34830106 Free PMC article.
Mitochondrial DNA depletion syndromes (MDS) are clinically heterogenous and often severe diseases, characterized by a reduction of the number of copies of mitochondrial DNA (mtDNA) in affected tissues. ...All ten of the identified …
Mitochondrial DNA depletion syndromes (MDS) are clinically heterogenous and often severe diseases, charac …
Reflections on Charlie Gard and the Best Interests Standard From Both Sides of the Atlantic Ocean.
Ross LF. Ross LF. Pediatrics. 2020 Aug;146(Suppl 1):S60-S65. doi: 10.1542/peds.2020-0818L. Pediatrics. 2020. PMID: 32737234
Charlie Gard (August 4, 2016, to July 28, 2017) was an infant in the United Kingdom who was diagnosed with an encephalopathic form of mitochondrial DNA depletion syndrome caused by a mutation in the RRM2B gene. Charlie's parents raised 1.3 mill …
Charlie Gard (August 4, 2016, to July 28, 2017) was an infant in the United Kingdom who was diagnosed with an encephalopathic form of mit …
Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic Diseases.
Mahtani K, Park D, Abbott J, Selvam PP, Atwal PS. Mahtani K, et al. Hum Hered. 2021;86(1-4):28-33. doi: 10.1159/000519356. Epub 2021 Oct 27. Hum Hered. 2021. PMID: 34706366
Multiple familial diseases in a single patient often present with overlapping symptomatology that confers difficulty in delineating a clinical diagnosis. ...This report shows that pedigree analysis and WES are co-dependent processes in establishing diagnoses in a family wi …
Multiple familial diseases in a single patient often present with overlapping symptomatology that confers difficulty in delineating a …
Investigating the safety and efficacy of deoxycytidine/deoxythymidine in mitochondrial DNA depletion disorders: phase 2 open-label trial.
Berrahmoune S, Dassi C, Pekeles H, Cheung ACT, Gagnon T, Waters PJ, Buhas D, Myers KA. Berrahmoune S, et al. J Neurol. 2025 Apr 2;272(4):307. doi: 10.1007/s00415-025-13060-w. J Neurol. 2025. PMID: 40175578 Clinical Trial.
OBJECTIVE: Mitochondrial DNA depletion disorders are rare genetic disorders involving mitochondrial dysfunction. ...CONCLUSION: These data suggest deoxycytidine/deoxythymidine is a safe and therapeutically promising intervention for a broad range of …
OBJECTIVE: Mitochondrial DNA depletion disorders are rare genetic disorders involving mitochondrial dysfunction. …