Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome Article Swipe
Sanna Matilainen
,
Christopher J. Carroll
,
Uwe Richter
,
Liliya Euro
,
Max Pohjanpelto
,
Anders Paetau
,
Pirjo Isohanni
,
Anu Suomalainen
·
YOU?
·
· 2017
· Open Access
·
· DOI: https://doi.org/10.1093/hmg/ddx221
YOU?
·
· 2017
· Open Access
·
· DOI: https://doi.org/10.1093/hmg/ddx221
Leigh syndrome is a severe infantile encephalopathy with an exceptionally variable genetic background. We studied the exome of a child manifesting with Leigh syndrome at one month of age and progressing to death by the age of 2.4 years, and identified novel compound heterozygous variants in PNPT1, encoding the polynucleotide phosphorylase (PNPase). Expression of the wild type PNPT1 in the subject's myoblasts functionally complemented the defects, and the pathogenicity was further supported by structural predictions and protein and RNA analyses. PNPase is a key enzyme in mitochondrial RNA metabolism, with suggested roles in mitochondrial RNA import and degradation. The variants were predicted to locate in the PNPase active site and disturb the RNA processing activity of the enzyme. The PNPase trimer formation was not affected, but specific RNA processing intermediates derived from mitochondrial transcripts of the ND6 subunit of Complex I, as well as small mRNA fragments, accumulated in the subject's myoblasts. Mitochondrial RNA processing mediated by the degradosome consisting of hSUV3 and PNPase is poorly characterized, and controversy on the role and location of PNPase within human mitochondria exists. Our evidence indicates that PNPase activity is essential for the correct maturation of the ND6 transcripts, and likely for the efficient removal of degradation intermediates. Loss of its activity will result in combined respiratory chain deficiency, and a classic respiratory chain-deficiency-associated disease, Leigh syndrome, indicating an essential role for the enzyme for normal function of the mitochondrial respiratory chain.
Related Topics
Concepts
Biology
Purine nucleoside phosphorylase
Polynucleotide phosphorylase
Respiratory chain
Degradosome
Genetics
RNA editing
Mitochondrial DNA
RNA
Exosome complex
Mitochondrion
Gene
Biochemistry
Enzyme
Non-coding RNA
Purine
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1093/hmg/ddx221
- https://academic.oup.com/hmg/article-pdf/26/17/3352/19544112/ddx221.pdf
- OA Status
- bronze
- Cited By
- 50
- References
- 22
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2640016884
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2640016884Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1093/hmg/ddx221Digital Object Identifier
- Title
-
Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndromeWork title
- Type
-
articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2017Year of publication
- Publication date
-
2017-06-22Full publication date if available
- Authors
-
Sanna Matilainen, Christopher J. Carroll, Uwe Richter, Liliya Euro, Max Pohjanpelto, Anders Paetau, Pirjo Isohanni, Anu SuomalainenList of authors in order
- Landing page
-
https://doi.org/10.1093/hmg/ddx221Publisher landing page
- PDF URL
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https://academic.oup.com/hmg/article-pdf/26/17/3352/19544112/ddx221.pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
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https://academic.oup.com/hmg/article-pdf/26/17/3352/19544112/ddx221.pdfDirect OA link when available
- Concepts
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Biology, Purine nucleoside phosphorylase, Polynucleotide phosphorylase, Respiratory chain, Degradosome, Genetics, RNA editing, Mitochondrial DNA, RNA, Exosome complex, Mitochondrion, Gene, Biochemistry, Enzyme, Non-coding RNA, PurineTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
50Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 2, 2024: 8, 2023: 4, 2022: 12, 2021: 6Per-year citation counts (last 5 years)
- References (count)
-
22Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| corresponding_author_ids | https://openalex.org/A5061096092 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 8 |
| corresponding_institution_ids | https://openalex.org/I133731052 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.7300000190734863 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.87262246 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |