Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Mitochondrial Function in Gilles de la Tourette Syndrome Patients With and Without Intragenic IMMP2L Deletions

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Probing Context-Dependent Modulations of Ipsilateral Premotor-Motor Connectivity in Relapsing-Remitting Multiple Sclerosis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Functional Loss After Meningitis-Evaluation of Vestibular Function in Patients With Postmeningitic Hearing Loss

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Easily Conducted Tests During the First Week Post-stroke Can Aid the Prediction of Arm Functioning at 6 Months

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Editorial: Impact of Traumatic Brain Injuries on Participation in Daily Life and Work: Recent Research and Future Directions

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Chromothripsis and DNA Repair Disorders

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

Vis graf over relationer

Background: Gilles de la Tourette syndrome (GTS) is a neurodevelopmental condition characterized by motor and vocal tics. The underlying etiology remains largely unknown, and GTS is considered as a complex multifactorial disorder associated with effects of several genes in combination with environmental factors. The inner mitochondrial membrane peptidase, subunit 2 (IMMP2L) has been suggested as one of the susceptibility genes for GTS, and IMMP2L-deficient mouse and human cells show increased levels of mitochondrial oxidative stress and altered cell fate programming. Hence, a potential involvement of IMMP2L-induced mitochondrial dysfunction in GTS pathology is yet to be elucidated. To address this, we investigated mitochondrial function in a group of GTS patients with intragenic IMMP2L deletions and compared with GTS without IMMP2L deletions and healthy controls. Methods: Mitochondrial function in fibroblasts from GTS patients and non-GTS parents (with and without IMMP2L deletions) compared to healthy controls were evaluated by measuring mitochondrial superoxide production, mitochondrial membrane potential, mitochondrial mass, and mitochondrial respiration. In addition, we evaluated apoptosis and senescence. Results: None of the mitochondrial parameters assessed in this study were significantly distinctive when comparing GTS patients with and without IMMP2L deletions against healthy controls or parents with or without IMMP2L deletions, and we did not observe altered cell programming. Conclusion: This study suggests that IMMP2L deletions do not lead to a substantial general mitochondrial dysfunction in GTS fibroblasts. Assessing a large cohort of controls and patients of similar age and gender would possibly reveal small differences in mitochondrial function. However, it is possible that IMMP2L variants affect mitochondrial function during specific instances of stress stimuli or in brain regions suggested to be affected in GTS.

OriginalsprogEngelsk
TidsskriftFrontiers in Neurology
Vol/bind11
Sider (fra-til)163
ISSN1664-2295
DOI
StatusUdgivet - 2020

Bibliografisk note

Copyright © 2020 Bjerregaard, Schönewolf-Greulich, Juel Rasmussen, Desler and Tümer.

ID: 59748556