The mitochondrial encephalomyopathies are a heterogeneous group of disorders characterized by mitochondrial dysfunction that produce multisystem symptoms. This disorder affects both the central and peripheral nervous systems, skeletal muscles, heart, endocrine glands, gastrointestinal tract, hematopoietic system, and kidneys (Table 1) [1]. Patients with mitochondrial encephalomyopathy can be di...

The diagnosis of a mitochondrial disorder is often difficult. Therefore, new approaches and diagnostic criteria are being developed. One of these tests is the aerobic forearm exercise test, a screening tool that can contribute to assess whether or not the patient suffers from a mitochondrial myopathy. With this simple, non-invasive test, the oxidative metabolism of muscle can be evaluated in re...

Dienoyl-CoA reductase (DECR) deficiency with hyperlysinemia is a rare disorder affecting the metabolism of polyunsaturated fatty acids and lysine. The molecular basis of this condition is currently unknown. We describe a new case with failure to thrive, developmental delay, lactic acidosis and severe encephalopathy suggestive of a mitochondrial disorder. Exome sequencing revealed a causal mutat...

Autism spectrum disorder (ASD) is a pervasive neuro-developmental disorder characterized by impaired social interaction, reduced/absent verbal and non-verbal communication, and repetitive behavior during early childhood. The etiology of this developmental disorder is poorly understood, and no biomarkers have been identified. Identification of novel biochemical markers related to autism would be...

BACKGROUND Pathophysiology of attention-deficit hyperactivity disorder (ADHD) is not known, and therefore the present study investigated mitochondrial defects, if any in cybrids created from patients and control population. METHODS To investigate mitochondrial pathology in ADHD, cybrids cell lines were created from ADHD probands and controls by fusing their platelets with ρ0-cells prepared fr...

Mitochondrial diseases are polymorphic entities which may affect many organs and systems. Skeletal muscle involvement is frequent in the context of systemic mitochondrial disease, but adult-onset pure mitochondrial myopathy appears to be rare. We report 3 patients with progressive skeletal mitochondrial myopathy starting in adult age. In all cases, the proximal myopathy was the only clinical fe...

OBJECTIVES Mitochondrial disorders (MIDs) frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or evolve into MIMODS during the course. This study aimed to find which organs and/or tissues are most frequently affected by MIMODS, which are the most frequent abnormalities within an affected organ, whether there are typical MIMODS patterns, and to generate an MIMODS s...

friedreichs ataxia (frda) is an autosomal recessive neurodegenerative disorder caused by decreased expression of the protein frataxin. frataxin deficiency leads to excessive free radical production and dysfunction of chain complexes. mitochondrial dna (mtdna) could be considered a candidate modifier factor for frda disease, since mitochondrial oxidative stress is thought to be involved in the p...

BACKGROUND Mitochondria provide most of the energy for brain cells by the process of oxidative phosphorylation. Mitochondrial abnormalities and deficiencies in oxidative phosphorylation have been reported in individuals with schizophrenia (SZ), bipolar disorder (BD), and major depressive disorder (MDD) in transcriptomic, proteomic, and metabolomic studies. Several mutations in mitochondrial DNA...