Publications related to Mitochondrial disease

Related publications (32)

Unraveling mitochondrial dynamics: exploring asymmetries and function through advanced microscopy

Still displaying characteristics of their bacterial origin, such as autonomous division, motility, and their own genome, mitochondria remain an elusive component of modern eukaryotes. They produce most of the cell's energy in the form of adenosine triphosp ...

EPFL2024

Drug Screening in C. elegans to identify new pharmacological mitochondrial stress inducers

Amélia Lalou

Mitochondria are essential organelles participating in numerous cellular functions, including energy harvesting, regulation of homeostasis and apoptosis. Changes in mitochondrial number, morphology, and function not only impact cellular metabolism but also ...

EPFL2024

Adolescent Stress-Induced Ventral Hippocampus Redox Dysregulation Underlies Behavioral Deficits and Excitatory/Inhibitory Imbalance Related to Schizophrenia

Maria del Carmen Sandi Perez, Dogukan Hazar Ülgen

Background and hypothesis: Redox dysregulation has been proposed as a convergent point of childhood trauma and the emergence of psychiatric disorders, such as schizophrenia (SCZ). A critical region particularly vulnerable to environmental insults during ad ...

2024

Powering the social brain: Mitochondria in social behaviour

Maria del Carmen Sandi Perez, Dogukan Hazar Ülgen, Silvie Rosalie Ruigrok

A central role of brain mitochondria in regulating and influencing social behaviour is emerging. In addition to its important roles as the "powerhouses" of the cell, mitochondria possess a plethora of cellular functions, such as regulating ion homeostasis, ...

2023

Brain mitochondrial diversity and network organization predict anxiety-like behavior in male mice

Maria del Carmen Sandi Perez

The brain and behavior are under energetic constraints, limited by mitochondrial energy transformation capacity. However, the mitochondria-behavior relationship has not been systematically studied at a brain-wide scale. Here we examined the association bet ...

Nature Research2023

Reanalysis of mtDNA mutations of human primordial germ cells (PGCs) reveals NUMT contamination and suggests that selection in PGCs may be positive

Konstantin Popadin

The resilience of the mitochondrial genome (mtDNA) to a high mutational pressure depends, in part, on negative purifying selection in the germline. A paradigm in the field has been that such selection, at least in part, takes place in primordial germ cells ...

Elsevier Sci Ltd2023

The mitochondrial calcium uniporter (MCU) activates mitochondrial respiration and enhances mobility by regulating mitochondrial redox state

Vincenzo Sorrentino

Regulation of mitochondrial redox balance is emerging as a key event for cell signaling in both physiological and pathological conditions. However, the link between the mitochondrial redox state and the modulation of these conditions remains poorly defined ...

ELSEVIER2023

Transcriptomic analysis reveals mitochondrial pathways associated with distinct adolescent behavioral phenotypes and stress response

Maria del Carmen Sandi Perez, Dogukan Hazar Ülgen

Adolescent individuals exhibit great variability in cortical dynamics and behavioral outcomes. The developing adolescent brain is highly sensitive to social experiences and environmental insults, influencing how personality traits emerge. A distinct patter ...

2023

Mitophagy Activation by Urolithin A to Target Muscle Aging

Davide D'Amico

The age-related loss of skeletal muscle function starts from midlife and if left unaddressed can lead to an impaired quality of life. A growing body of evidence indicates that mitochondrial dysfunction is causally involved with muscle aging. Muscles are ti ...

Springer2023

Mitofusin-2 in nucleus accumbens D2-MSNs regulates social dominance and neuronal function

Maria del Carmen Sandi Perez, Bernard Schneider, Olivia Zanoletti, Simone Astori, Jocelin Grosse, Marie-Isabelle Guillot de Suduiraut, Eva Ramos Fernandez, Elias Georges Gebara, Alessandro Chioino, Sriparna Ghosal

The nucleus accumbens (NAc) is a brain hub regulating motivated behaviors, including social competitiveness. Mitochondrial function in the NAc links anxiety with social competitiveness, and the mitochondrial fusion protein mitofusin 2 (Mfn2) in NAc neurons ...

2023

Metabolic dependencies of metastasis-initiating cells in breast cancer

Candice Megan T Young

Metastasis is the process by which cancer cells from the primary tumor travel through the blood stream to generate a secondary tumor site in a distant organ. Although very few cells are able to make this journey, the resulting effects are dire since most c ...

EPFL2023

Mitochondrial respiratory chain dysfunction disrupts intracellular cholesterol homeostasis

Christopher Tadhg James Wall

Mitochondrial diseases are rare and severe conditions with debilitating symptoms. Biochemical defects in mitochondria however are common. The difference between these two frequencies is suspected to lie in the capability of the cells to adapt to the homeos ...

EPFL2022

A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand

Jacques Fellay, Konstantin Popadin

The mutational spectrum of the mitochondrial DNA (mtDNA) does not resemble any of the known mutational signatures of the nuclear genome and variation in mtDNA mutational spectra between different organisms is still incomprehensible. Since mitochondria are ...

OXFORD UNIV PRESS2022

Dissecting the role of the mitochondrial carrier SLC25A47

Nadia Bresciani

Transporters of the SLC25 mitochondrial carrier superfamily bridge cytoplasmic and mitochondrial metabolism by channeling metabolites across mitochondrial membranes and are pivotal for metabolic homeostasis. Despite their physiological relevance as gatekee ...

EPFL2022

Investigation of Carboxylic Acid Isosteres and Prodrugs for Inhibition of the Human SIRT5 Lysine Deacylase Enzyme

Alexander Lund Nielsen

Sirtuin 5 (SIRT5) is a protein lysine deacylase enzyme that regulates diverse biology by hydrolyzing epsilon-N-carboxyacyllysine posttranslational modifications in the cell. Inhibition of SIRT5 has been linked to potential treatment of several cancers but ...

Wiley-VCH Verlag GmbH2022

Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline

Konstantin Popadin

The A-to-G point mutation at position 3243 in the human mitochondrial genome (m.3243A > G) is the most common pathogenic mtDNA variant responsible for disease in humans. It is widely accepted that m.3243A > G levels decrease in blood with age, and an age c ...

Oxford University Press2022

Role of the cystathionine beta-synthase / H2S pathway in the development of cellular metabolic dysfunction and pseudohypoxia in down syndrome

Theodora Panagaki

Background: Overexpression of the transsulfuration enzyme cystathionine-beta-synthase (CBS), and overproduction of its product, hydrogen sulfide (H2S) are recognized as potential pathogenetic factors in Down syndrome (DS). The purpose of the study was to d ...

ELSEVIER2022

The cGAS–STING pathway drives type I IFN immunopathology in COVID-19

Andrea Ablasser, Vivek Vijay Thacker, Kunal Sharma, Muhammet Fatih Gülen, Anaëlle Fabienne Dubois, Théo Nass

COVID-19, which is caused by infection with SARS-CoV-2, is characterized by lung pathology and extrapulmonary complications1,2. Type I interferons (IFNs) have an essential role in the pathogenesis of COVID-19 (refs 3–5). Although rapid induction of type I ...

2022

Fatal attraction-The role of hypoxia when alpha-synuclein gets intimate with mitochondria

Hilal Lashuel, Grégoire Millet, Johannes Burtscher, Muhammed Muazzam Kamil Syed

Alpha-synuclein aggregation and mitochondrial dysfunction are main pathological hallmarks of Parkinson's disease (PD) and several other neurodegenerative diseases, collectively known as synucleinopathies. However, increasing evidence suggests that they may ...

ELSEVIER SCIENCE INC2021

Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function

Matteo Dal Peraro, Maria Josefina Marcaida Lopez

Deficiency of the serine hydrolase prolyl endopeptidase-like (PREPL) causes a recessive metabolic disorder characterized by neonatal hypotonia, feeding difficulties, and growth hormone deficiency. The pathophysiology of PREPL deficiency and the physiologic ...

CELL PRESS2021