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An update and perspectives on mitochondrial membrane protein-associated neurodegeneration and C19orf12 research.
Brain Sci. 15:777 (2025)
Mitochondrial Membrane Protein-Associated Neurodegeneration is a rare
monogenic form of neurodegeneration characterized by iron accumulation
in the brain. It is due to variants in the orphan gene C19orf12.
Since its definition in 2011, many scientific groups have investigated
the clinical features and molecular underpinnings of the disorder. In
this review, we summarize the main points of progress in this field,
trying to highlight the issues that need further attention and efforts
to speed up the diagnostic path, improve the existing treatment options,
and define targeted therapies.
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Publication type
Article: Journal article
Document type
Review
Keywords
Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN); C19orf12; Neurodegeneration with Brain Iron Accumulation (NBIA); movement disorders; rare hereditary diseases
ISSN (print) / ISBN
2076-3425
e-ISSN
2076-3425
Journal
Brain Sciences
Quellenangaben
Volume: 15,
Issue: 8,
Article Number: 777
Publisher
MDPI
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)
Grants
Università degli Studi di Brescia