Evidence map›Paper›PMID 38445970›Full record

ArticleAdvanced science (Weinheim, Baden-Wurttemberg, Germany)2024

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

Anbin Chen, Tsering Yangzom, Yu Hong, Bjørn Christian Lundberg, Gareth John Sullivan, Charalampos Tzoulis, Laurence A Bindoff, Kristina Xiao Liang

Open access · goldAbstract read
In one paragraph

Article in Advanced science (Weinheim, Baden-Wurttemberg, Germany), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
1.6field-weighted citation impact, top 17% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Pooled it
  2. A combined artificial intelligence-wet lab approach identifies a pivotal role of the NADAlzheimer's & dementia : the journal of the Alzheimer's Association · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 4 institutions in 2 countries.

Anbin ChenDepartment of Clinical Medicine (K1), University of Bergen, Bergen, 5021, Norway.
Tsering YangzomDepartment of Clinical Medicine (K1), University of Bergen, Bergen, 5021, Norway.
Yu HongDepartment of Clinical Medicine (K1), University of Bergen, Bergen, 5021, Norway.
Bjørn Christian LundbergDepartment of Clinical Medicine (K1), University of Bergen, Bergen, 5021, Norway.
Gareth John SullivanDepartment of Pediatric Research, Oslo University Hospital, Oslo, 0424, Norway.
Charalampos TzoulisDepartment of Clinical Medicine (K1), University of Bergen, Bergen, 5021, Norway.
Laurence A BindoffDepartment of Clinical Medicine (K1), University of Bergen, Bergen, 5021, Norway.
Kristina Xiao LiangDepartment of Clinical Medicine (K1), University of Bergen, Bergen, 5021, Norway.ORCID 0000-0002-3586-4218
University of Bergen · NOHaukeland University Hospital · NOOslo University Hospital · NOXinHua Hospital · CN

Funding

L. Meltzers Høyskolefond 103517133Norwegian Research Council 262613Norwegian Research Council #62613Rakel og Otto Kr.Bruuns legat #103816102Rakel og Otto Kr.Bruuns legat #809432
6 · The paper itself

Abstract

In this research, a 3D brain organoid model is developed to study POLG-related encephalopathy, a mitochondrial disease stemming from POLG mutations. Induced pluripotent stem cells (iPSCs) derived from patients with these mutations is utilized to generate cortical organoids, which exhibited typical features of the diseases with POLG mutations, such as altered morphology, neuronal loss, and mitochondiral DNA (mtDNA) depletion. Significant dysregulation is also identified in pathways crucial for neuronal development and function, alongside upregulated NOTCH and JAK-STAT signaling pathways. Metformin treatment ameliorated many of these abnormalities, except for the persistent affliction of inhibitory dopamine-glutamate (DA GLU) neurons. This novel model effectively mirrors both the molecular and pathological attributes of diseases with POLG mutations, providing a valuable tool for mechanistic understanding and therapeutic screening for POLG-related disorders and other conditions characterized by compromised neuronal mtDNA maintenance and complex I deficiency.

Indexed as

DNA Polymerase gammaInduced Pluripotent Stem CellsMitochondrial DiseasesOrganoidsBrainDNA, MitochondrialHumansMutationDNA, MitochondrialDNA Polymerase gammacortical organoidsiPSCmitochondrial functionneuronPOLG

Identifiers

PMID38445970
PMCPMC11095234
OpenAlexW4392519288

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.