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Assessment of Mitochondrial DNA Copy Number in Progressive Supranuclear Palsy Patients: Evidence From a Pilot Study.

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Title: Assessment of Mitochondrial DNA Copy Number in Progressive Supranuclear Palsy Patients: Evidence From a Pilot Study.
Authors: Citrigno, Luigi (AUTHOR), Cerantonio, Annamaria (AUTHOR), Gagliardi, Monica (AUTHOR), Procopio, Radha (AUTHOR), Felicetti, Alessia (AUTHOR), Aureli, Anna (AUTHOR), Morelli, Maurizio (AUTHOR), Annesi, Grazia (AUTHOR)
Source: European Journal of Neurology. Apr2026, Vol. 33 Issue 4, p1-7. 7p.
Subjects: Progressive supranuclear palsy, Mitochondrial DNA, Mitochondrial pathology, Disease progression, Biomarkers, Blood testing, Neurodegeneration, Diagnostic use of polymerase chain reaction
Abstract: Background: Progressive supranuclear palsy (PSP) is a rare neurodegenerative tauopathy characterized by early postural instability and vertical gaze palsy. Mitochondrial dysfunctions have been increasingly implicated in the pathogenesis of neurodegenerative disorders, including PSP. We investigated mitochondrial DNA copy number (mtDNA‐CN) alterations in the peripheral blood of PSP patients, assessing its potential as a biomarker for disease onset and progression. Methods: We measured mtDNA‐CN in a cohort of clinically diagnosed PSP patients and age‐matched healthy controls using quantitative real‐time PCR. We evaluated differences across clinical phenotypes and age groups. Results: PSP patients exhibited a significant reduction in ND3‐CN compared to healthy controls (p < 0.0001). This depletion remained consistent across age groups, suggesting that mitochondrial impairment in PSP is independent of physiological aging. Although not statistically significant, ND3‐CN levels were lower in PSP‐parkinsonism (PSP‐P) patients compared to those with Richardson's syndrome (PSP‐RS). Interestingly, in PSP‐RS patients, ND3‐CN levels tended to increase with age, potentially reflecting an age‐related compensatory mitochondrial response to chronic neuroinflammation. Conclusions: Our findings support the involvement of mitochondrial dysfunction in PSP pathogenesis, suggesting that peripheral mtDNA‐CN may serve as a non‐invasive biomarker for disease monitoring. Further studies in larger cohorts are warranted to validate its prognostic potential in different PSP phenotypes. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Assessment of Mitochondrial DNA Copy Number in Progressive Supranuclear Palsy Patients: Evidence From a Pilot Study.
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  Data: &lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Citrigno%2C+Luigi%22&quot;&gt;Citrigno, Luigi&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Cerantonio%2C+Annamaria%22&quot;&gt;Cerantonio, Annamaria&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Gagliardi%2C+Monica%22&quot;&gt;Gagliardi, Monica&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Procopio%2C+Radha%22&quot;&gt;Procopio, Radha&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Felicetti%2C+Alessia%22&quot;&gt;Felicetti, Alessia&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Aureli%2C+Anna%22&quot;&gt;Aureli, Anna&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Morelli%2C+Maurizio%22&quot;&gt;Morelli, Maurizio&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Annesi%2C+Grazia%22&quot;&gt;Annesi, Grazia&lt;/searchLink&gt; (AUTHOR)
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  Data: &lt;searchLink fieldCode=&quot;JN&quot; term=&quot;%22European+Journal+of+Neurology%22&quot;&gt;European Journal of Neurology&lt;/searchLink&gt;. Apr2026, Vol. 33 Issue 4, p1-7. 7p.
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  Data: &lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Progressive+supranuclear+palsy%22&quot;&gt;Progressive supranuclear palsy&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Mitochondrial+DNA%22&quot;&gt;Mitochondrial DNA&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Mitochondrial+pathology%22&quot;&gt;Mitochondrial pathology&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Disease+progression%22&quot;&gt;Disease progression&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Biomarkers%22&quot;&gt;Biomarkers&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Blood+testing%22&quot;&gt;Blood testing&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Neurodegeneration%22&quot;&gt;Neurodegeneration&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Diagnostic+use+of+polymerase+chain+reaction%22&quot;&gt;Diagnostic use of polymerase chain reaction&lt;/searchLink&gt;
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background: Progressive supranuclear palsy (PSP) is a rare neurodegenerative tauopathy characterized by early postural instability and vertical gaze palsy. Mitochondrial dysfunctions have been increasingly implicated in the pathogenesis of neurodegenerative disorders, including PSP. We investigated mitochondrial DNA copy number (mtDNA‐CN) alterations in the peripheral blood of PSP patients, assessing its potential as a biomarker for disease onset and progression. Methods: We measured mtDNA‐CN in a cohort of clinically diagnosed PSP patients and age‐matched healthy controls using quantitative real‐time PCR. We evaluated differences across clinical phenotypes and age groups. Results: PSP patients exhibited a significant reduction in ND3‐CN compared to healthy controls (p &lt; 0.0001). This depletion remained consistent across age groups, suggesting that mitochondrial impairment in PSP is independent of physiological aging. Although not statistically significant, ND3‐CN levels were lower in PSP‐parkinsonism (PSP‐P) patients compared to those with Richardson&#39;s syndrome (PSP‐RS). Interestingly, in PSP‐RS patients, ND3‐CN levels tended to increase with age, potentially reflecting an age‐related compensatory mitochondrial response to chronic neuroinflammation. Conclusions: Our findings support the involvement of mitochondrial dysfunction in PSP pathogenesis, suggesting that peripheral mtDNA‐CN may serve as a non‐invasive biomarker for disease monitoring. Further studies in larger cohorts are warranted to validate its prognostic potential in different PSP phenotypes. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
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  Data: &lt;i&gt;Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder&#39;s express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.&lt;/i&gt; (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=193256610
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        Value: 10.1111/ene.70594
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        Text: English
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        PageCount: 7
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      – SubjectFull: Progressive supranuclear palsy
        Type: general
      – SubjectFull: Mitochondrial DNA
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      – SubjectFull: Mitochondrial pathology
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      – SubjectFull: Blood testing
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      – SubjectFull: Neurodegeneration
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      – SubjectFull: Diagnostic use of polymerase chain reaction
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      – TitleFull: Assessment of Mitochondrial DNA Copy Number in Progressive Supranuclear Palsy Patients: Evidence From a Pilot Study.
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              Text: Apr2026
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              Y: 2026
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