Literature DB >> 34350863

Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders?

Xilma R Ortiz-González1.   

Abstract

Mitochondria, the organelles classically seen as the powerhouse of the cell, are increasingly associated with a wide variety of neurodevelopmental disorders. Although individually rare, a myriad of pediatric neurogenetic disorders have been identified in the last few years, thanks to advances in clinical genetic sequencing and data analysis. As this exponential growth continues, mitochondrial dysfunction is increasingly implicated in childhood neurodevelopmental disorders, with clinical presentations ranging from syndromic autism, intellectual disability, and epileptic encephalopathies to childhood onset neurodegeneration. Here we review recent evidence demonstrating mitochondrial involvement in neurodevelopmental disorders, identify emerging mechanistic trends, and reconsider the long-standing question of the role of mitochondria in light of new evidence: causation versus mere association.
© 2021 S. Karger AG, Basel.

Entities:  

Keywords:  Epilepsy; Intellectual disability; Mitochondria; Neurodegeneration; Neurodevelopmental disorders

Mesh:

Year:  2021        PMID: 34350863      PMCID: PMC8440386          DOI: 10.1159/000517870

Source DB:  PubMed          Journal:  Dev Neurosci        ISSN: 0378-5866            Impact factor:   3.421


  84 in total

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Journal:  Hum Mol Genet       Date:  2010-05-26       Impact factor: 6.150

2.  Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

Authors:  Akemi J Tanaka; Megan T Cho; Francisca Millan; Jane Juusola; Kyle Retterer; Charuta Joshi; Dmitriy Niyazov; Adolfo Garnica; Edward Gratz; Matthew Deardorff; Alisha Wilkins; Xilma Ortiz-Gonzalez; Katherine Mathews; Karin Panzer; Eva Brilstra; Koen L I van Gassen; Catharina M L Volker-Touw; Ellen van Binsbergen; Nara Sobreira; Ada Hamosh; Dianalee McKnight; Kristin G Monaghan; Wendy K Chung
Journal:  Am J Hum Genet       Date:  2015-08-20       Impact factor: 11.025

3.  Mitochondrial biogenesis is transcriptionally repressed in lysosomal lipid storage diseases.

Authors:  King Faisal Yambire; Lorena Fernandez-Mosquera; Robert Steinfeld; Christiane Mühle; Elina Ikonen; Ira Milosevic; Nuno Raimundo
Journal:  Elife       Date:  2019-02-18       Impact factor: 8.140

4.  Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex.

Authors:  Darius Ebrahimi-Fakhari; Afshin Saffari; Lara Wahlster; Alessia Di Nardo; Daria Turner; Tommy L Lewis; Christopher Conrad; Jonathan M Rothberg; Jonathan O Lipton; Stefan Kölker; Georg F Hoffmann; Min-Joon Han; Franck Polleux; Mustafa Sahin
Journal:  Cell Rep       Date:  2016-10-18       Impact factor: 9.423

5.  The free radical scavenger Trolox dampens neuronal hyperexcitability, reinstates synaptic plasticity, and improves hypoxia tolerance in a mouse model of Rett syndrome.

Authors:  Oliwia A Janc; Michael Müller
Journal:  Front Cell Neurosci       Date:  2014-02-24       Impact factor: 5.505

6.  Molecular pathogenesis of polymerase γ-related neurodegeneration.

Authors:  Charalampos Tzoulis; Gia Tuong Tran; Jonathan Coxhead; Bjørn Bertelsen; Peer K Lilleng; Novin Balafkan; Brendan Payne; Hrvoje Miletic; Patrick F Chinnery; Laurence A Bindoff
Journal:  Ann Neurol       Date:  2014-06-14       Impact factor: 10.422

Review 7.  Mitochondrial Dysfunction in the Pathogenesis of Rett Syndrome: Implications for Mitochondria-Targeted Therapies.

Authors:  Natalya Shulyakova; Ana C Andreazza; Linda R Mills; James H Eubanks
Journal:  Front Cell Neurosci       Date:  2017-03-14       Impact factor: 5.505

8.  Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin.

Authors:  Maria Sundberg; Ivan Tochitsky; David E Buchholz; Kellen Winden; Ville Kujala; Kush Kapur; Deniz Cataltepe; Daria Turner; Min-Joon Han; Clifford J Woolf; Mary E Hatten; Mustafa Sahin
Journal:  Mol Psychiatry       Date:  2018-02-15       Impact factor: 15.992

9.  Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Authors:  Kyle Thompson; Homa Majd; Cristina Dallabona; Karit Reinson; Martin S King; Charlotte L Alston; Langping He; Tiziana Lodi; Simon A Jones; Aviva Fattal-Valevski; Nitay D Fraenkel; Ann Saada; Alon Haham; Pirjo Isohanni; Roshni Vara; Inês A Barbosa; Michael A Simpson; Charu Deshpande; Sanna Puusepp; Penelope E Bonnen; Richard J Rodenburg; Anu Suomalainen; Katrin Õunap; Orly Elpeleg; Ileana Ferrero; Robert McFarland; Edmund R S Kunji; Robert W Taylor
Journal:  Am J Hum Genet       Date:  2016-12-01       Impact factor: 11.025

10.  Mitochondrial deficits in human iPSC-derived neurons from patients with 22q11.2 deletion syndrome and schizophrenia.

Authors:  Jianping Li; Sean K Ryan; Erik Deboer; Kieona Cook; Shane Fitzgerald; Herbert M Lachman; Douglas C Wallace; Ethan M Goldberg; Stewart A Anderson
Journal:  Transl Psychiatry       Date:  2019-11-18       Impact factor: 6.222

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  2 in total

Review 1.  Revealing the Impact of Mitochondrial Fitness During Early Neural Development Using Human Brain Organoids.

Authors:  Alejandra I Romero-Morales; Vivian Gama
Journal:  Front Mol Neurosci       Date:  2022-04-29       Impact factor: 6.261

Review 2.  From the Structural and (Dys)Function of ATP Synthase to Deficiency in Age-Related Diseases.

Authors:  Caterina Garone; Andrea Pietra; Salvatore Nesci
Journal:  Life (Basel)       Date:  2022-03-10
  2 in total

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