MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization Article Swipe
Michela Ripolone
,
Simona Zanotti
,
Laura Napoli
,
Dario Ronchi
,
Patrizia Ciscato
,
Giacomo P. Comi
,
Maurizio Moggio
,
Monica Sciacco
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/jpm13010147
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/jpm13010147
A 53-year-old man approached our Neuromuscular Unit following an incidental finding of hyperckemia. Similar to his mother who had died at the age of 77 years, he was diabetic and had a few lipomas. The patient’s two sisters, aged 60 and 50 years, did not have any neurological symptoms. Proband’s skeletal muscle biopsy showed several COX-negative fibers, many of which were “ragged red”. Genetic analysis revealed the presence of the A8344G mtDNA mutation, which is most commonly associated with a maternally inherited multisystem mitochondrial disorder known as MERRF (myoclonus epilepsy with ragged-red fibers). The two sisters also carry the mutation. Family members on the maternal side were reported healthy. Although atypical phenotypes have been reported in association with the A8344G mutation, central nervous system (CSN) manifestations other than myoclonic epilepsy are always reported in the family tree. If present, our four-generation family manifestations are late-onset and do not affect CNS. This could be explained by the fact that the mutational load remains low and therefore prevents tissues/organs from reaching the pathologic threshold. The fact that this occurs throughout generations and that CNS, which has the highest energetic demand, is clinically spared, suggests that regulatory genes and/or pathways affect mitochondrial segregation and replication, and protect organs from progressive dysfunction.
Related Topics
Concepts
Proband
Epilepsy
Mitochondrial DNA
Mutation
Medicine
Central nervous system
Myoclonic epilepsy
Mitochondrial disease
Disease
Leigh disease
Muscle biopsy
Genetics
Pathology
Biology
Internal medicine
Gene
Biopsy
Psychiatry
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/jpm13010147
- https://www.mdpi.com/2075-4426/13/1/147/pdf?version=1674016763
- OA Status
- gold
- Cited By
- 5
- References
- 42
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4317658927
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4317658927Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3390/jpm13010147Digital Object Identifier
- Title
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MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular CharacterizationWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-01-11Full publication date if available
- Authors
-
Michela Ripolone, Simona Zanotti, Laura Napoli, Dario Ronchi, Patrizia Ciscato, Giacomo P. Comi, Maurizio Moggio, Monica SciaccoList of authors in order
- Landing page
-
https://doi.org/10.3390/jpm13010147Publisher landing page
- PDF URL
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https://www.mdpi.com/2075-4426/13/1/147/pdf?version=1674016763Direct link to full text PDF
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
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https://www.mdpi.com/2075-4426/13/1/147/pdf?version=1674016763Direct OA link when available
- Concepts
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Proband, Epilepsy, Mitochondrial DNA, Mutation, Medicine, Central nervous system, Myoclonic epilepsy, Mitochondrial disease, Disease, Leigh disease, Muscle biopsy, Genetics, Pathology, Biology, Internal medicine, Gene, Biopsy, PsychiatryTop concepts (fields/topics) attached by OpenAlex
- Cited by
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5Total citation count in OpenAlex
- Citations by year (recent)
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2025: 3, 2024: 1, 2023: 1Per-year citation counts (last 5 years)
- References (count)
-
42Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.progressive | 206 |
| abstract_inverted_index.segregation | 199 |
| abstract_inverted_index.COX-negative | 55 |
| abstract_inverted_index.dysfunction. | 207 |
| abstract_inverted_index.hyperckemia. | 12 |
| abstract_inverted_index.neurological | 47 |
| abstract_inverted_index.replication, | 201 |
| abstract_inverted_index.Neuromuscular | 5 |
| abstract_inverted_index.mitochondrial | 83, 198 |
| abstract_inverted_index.manifestations | 125, 142 |
| abstract_inverted_index.tissues/organs | 166 |
| abstract_inverted_index.four-generation | 140 |
| cited_by_percentile_year.max | 98 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5022589688 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 8 |
| corresponding_institution_ids | https://openalex.org/I2803066834, https://openalex.org/I4210087357 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.7900000214576721 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.74605952 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |