Is there heart disease in cases of neurodegeneration associated with mutations in C19orf12?

Skowrońska, Marta; Buksińska−Lisik, Małgorzata; Kmieć, Tomasz; Litwin, Tomasz; Kurkowska‐Jastrzębska, Iwona; Członkowska, Anna

doi:10.1016/j.parkreldis.2020.09.014

Cited by 4 publications

(3 citation statements)

References 11 publications

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“…MPAN may not only manifest in the brain and peripheral nerves, as listed in table 1 of the study, but also in the heart [2], the eyes [3], the muscle, and the gastro-intestinal and urogenital tracts (bowel/bladder incontinence) [4]. Cardiac disease in MPAN includes cardiomyopathy, arrhythmias, and autonomic dysfunction [2]. Additionally, it is conceivable that MPAN patients develop left ventricular hypertrabeculation, also known as noncompaction, pulmonary hypertension, aortic root ectasia, and myocardial scarring [5].…”

Section: Letter To the Editormentioning

confidence: 91%

“…Since mitochondrial disorders (MIDs) are usually multisystem diseases, either already at onset or become multisystem conditions with disease progression, it is crucial that patients with MPAN are also systematically and prospectively investigated for multisystem involvement. MPAN may not only manifest in the brain and peripheral nerves, as listed in table 1 of the study, but also in the heart [2], the eyes [3], the muscle, and the gastro-intestinal and urogenital tracts (bowel/bladder incontinence) [4]. Cardiac disease in MPAN includes cardiomyopathy, arrhythmias, and autonomic dysfunction [2].…”

Section: Letter To the Editormentioning

confidence: 99%

See 1 more Smart Citation

C19orf12 mutation carriers and their first-degree relatives require prospective clinical and genetic work-up

Finsterer

2021

Parkinsonism & Related Disorders

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Section: Letter To the Editormentioning

confidence: 91%

Section: Letter To the Editormentioning

confidence: 99%

C19orf12 mutation carriers and their first-degree relatives require prospective clinical and genetic work-up

Finsterer

2021

Parkinsonism & Related Disorders

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“…Therefore, MPAN research can bring important information regarding the relationship between cerebral Fe accumulation and alpha-synuclein aggregation. Interestingly, decreased heart rate variability and resting tachycardia without heart rate slowing during nighttime was described in MPAN suggesting cardiac autonomic dysfunction [201]. Yet, it was not investigated if abnormal alpha-synuclein aggregates are present in peripheral autonomic nerves as is the case in sporadic synucleinopathies such as PD.…”

Section: Neurodegenerations With Brain Iron Accumulation (Nbia) Groupmentioning

confidence: 99%

Cerebral Iron Deposition in Neurodegeneration

et al. 2022

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Disruption of cerebral iron regulation appears to have a role in aging and in the pathogenesis of various neurodegenerative disorders. Possible unfavorable impacts of iron accumulation include reactive oxygen species generation, induction of ferroptosis, and acceleration of inflammatory changes. Whole-brain iron-sensitive magnetic resonance imaging (MRI) techniques allow the examination of macroscopic patterns of brain iron deposits in vivo, while modern analytical methods ex vivo enable the determination of metal-specific content inside individual cell-types, sometimes also within specific cellular compartments. The present review summarizes the whole brain, cellular, and subcellular patterns of iron accumulation in neurodegenerative diseases of genetic and sporadic origin. We also provide an update on mechanisms, biomarkers, and effects of brain iron accumulation in these disorders, focusing on recent publications. In Parkinson’s disease, Friedreich’s disease, and several disorders within the neurodegeneration with brain iron accumulation group, there is a focal siderosis, typically in regions with the most pronounced neuropathological changes. The second group of disorders including multiple sclerosis, Alzheimer’s disease, and amyotrophic lateral sclerosis shows iron accumulation in the globus pallidus, caudate, and putamen, and in specific cortical regions. Yet, other disorders such as aceruloplasminemia, neuroferritinopathy, or Wilson disease manifest with diffuse iron accumulation in the deep gray matter in a pattern comparable to or even more extensive than that observed during normal aging. On the microscopic level, brain iron deposits are present mostly in dystrophic microglia variably accompanied by iron-laden macrophages and in astrocytes, implicating a role of inflammatory changes and blood–brain barrier disturbance in iron accumulation. Options and potential benefits of iron reducing strategies in neurodegeneration are discussed. Future research investigating whether genetic predispositions play a role in brain Fe accumulation is necessary. If confirmed, the prevention of further brain Fe uptake in individuals at risk may be key for preventing neurodegenerative disorders.

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Cardiac disease in mitochondrial membrane protein-associated neurodegeneration (MPAN) due to variants in C19orf12

Finsterer

2021

Parkinsonism & Related Disorders

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Is there heart disease in cases of neurodegeneration associated with mutations in C19orf12?

Cited by 4 publications

References 11 publications

C19orf12 mutation carriers and their first-degree relatives require prospective clinical and genetic work-up

C19orf12 mutation carriers and their first-degree relatives require prospective clinical and genetic work-up

Cerebral Iron Deposition in Neurodegeneration

Cardiac disease in mitochondrial membrane protein-associated neurodegeneration (MPAN) due to variants in C19orf12

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