Article

Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation

2025-03-22

Abstract excerpt

<h4>SUMMARY</h4> Mitochondrial diseases frequently affect the brain leading to severe and disabling neurological symptoms. The heteroplasmic m.3243A>G mutation in MT-TL1 , encoding mt-tRNA Leu , is responsible for ∼80% of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), which is one of the most characteristic mitochondrial syndromes, leading to disability and early death. Ther...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 38325e20-861f-509f-9acd-1656b8577a11
DOI: 10.1101/2025.03.21.644499

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutationDOI 10.1101/2025.03.21.644499Read

Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation.Semantic proximity Read

Sonlicromanol improves neuronal network dysfunction and transcriptome changes linked to m.3243A>G heteroplasmy in iPSC-derived neuronsSemantic proximity Read

Sonlicromanol improves neuronal network dysfunction and transcriptome changes linked to m.3243A>G heteroplasmy in iPSC-derived neurons.Semantic proximity Read

Multimodal single-cell analysis of non-random heteroplasmy distribution in human retinal mitochondrial diseaseSemantic proximity Read

Mitochondrial dysfunction impairs human neuronal development and reduces neuronal network activity and synchronicitySemantic proximity Read

Human iPSC-derived cerebral organoids model features of Leigh Syndrome and reveal abnormal corticogenesisSemantic proximity Read

Hallmark Molecular and Pathological Features of POLG Disease are Recapitulated in Cerebral Organoids.Semantic proximity Read

Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp).Semantic proximity Read

Cell-type-specific adaptations to mitochondrial stress underly the neurological presentations of <i>MTRFR</i> mutationsSemantic proximity Read

Origin and cell type specificity of mitochondrial DNA mutations in C9ORF72 ALS-FTLD human brain organoidsSemantic proximity Read

Human iPSC-derived cerebral organoids model features of Leigh syndrome and reveal abnormal corticogenesis.Semantic proximity Read

Neuropathological hallmarks in autopsied cases with mitochondrial diseases caused by the mitochondrial 3243A>G mutation.Semantic proximity Read