Evidence map›Paper›PMID 41054338›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2025

Biallelic Variants in SLC27A3 Cause a Complex Form of Neurodegeneration with Brain Iron Accumulation.

Lorena Travaglini, Cherim Jeon, Teresa Rizza, Antonio Novelli, Nicola Specchio, Anna Piluso, Enrico Bertini, Arcangela Iuso, Giacomo Garone

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PubMed Full text at PMC Publisher
In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

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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

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

9 authors.

Lorena TravagliniLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Cherim JeonInstitute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
Teresa RizzaLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Antonio NovelliLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Nicola SpecchioNeurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Anna PilusoLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Enrico BertiniResearch Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.
Arcangela IusoInstitute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
Giacomo GaroneNeurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0002-3029-8536

Funding

European Reference Network on Rare Neurological Disease 739510Ministero della SaluteMinistero dell'Istruzione, dell'Università e della Ricerca PE0000006
6 · The paper itself

Abstract

backgroundComplex lipid metabolism is one of the main biological pathways disrupted in neurodegeneration with brain iron accumulation (NBIA). SLC27A3 gene encodes for the very long-chain acyl-CoA synthetase 3, an acyl-CoA ligase that activates long and very long-chain fatty acids.

objectiveWe report on a 19-year-old patient with an NBIA pattern harboring a homozygous, nonsense SLC27A3 variant.

methodsSLC27A3 variants were identified using whole exome sequencing (WES). Their impact on protein function was assessed in patient fibroblasts using Western blot analysis, aerobic metabolism analysis, and fatty acid trafficking assays.

resultsThe patient presented with progressive ataxia, neuropathy, optic atrophy, cognitive deterioration, mood disorder, and brain iron accumulation. WES unraveled the homozygous c.1138C>T, p.(Arg380Ter) variant in the SLC27A3 gene. Functional studies showed that proband's variants eliminate protein expression, severely impair mitochondrial respiration, and disrupt lipid turnover.

conclusionOur results suggest that SLC27A3 biallelic nonsense variant may represent a novel cause of NBIA. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Indexed as

BrainCoenzyme A LigasesIronNeuroaxonal DystrophiesFemaleHumansIron Metabolism DisordersLong-Chain-Fatty-Acid-CoA LigaseMaleYoung AdultCoenzyme A LigasesIronLong-Chain-Fatty-Acid-CoA Ligaseataxiaironneurodegeneration with brain iron accumulation (NBIA)neuropathySLC27A3

Identifiers

PMID41054338
PMCPMC12710199

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