Mitochondrial encephalopathies (MEs) are characterized by an extreme clinical heterogeneity since they can involve different systems and manifest at distinct ages with variable course. Many affected individuals display a cluster of clinical features that fall into discrete syndromes among syndromic pictures, epilepsy is relevant in myoclonic epilepsy with ragged-red fibers (MERRF), mitochondria...

Patients with disorders from mutations in the mitochondrial genome have variable phenotypes, but common to many of these disorders are underlying changes in postmitotic cells, particularly neurons and muscle fibers. The mitochondrial dysfunction caused by these mutations has been shown to be associated with signs of apoptosis and to cause cell loss. Mutations of the mitochondrial genome have al...

Recent findings of mitochondrial abnormalities in brains from subjects with neurological disorders have led to a renewed search for mitochondrial abnormalities in psychiatric disorders. A growing body of evidence suggests that there is mitochondrial dysfunction in schizophrenia, bipolar disorder, and major depressive disorder, including evidence from electron microscopy, imaging, gene expressio...

Cumulating evidence for the involvement of mitochondrial dysfunction in psychiatric disorders leaves little to no doubt regarding the involvement of this pathology in mood disorders. However, mitochondrial abnormalities are also observed in a wide range of disorders spanning from cancer and diabetes to various neurodegenerative and neurodevelopmental disorders such as Parkinson's, Alzheimer's, ...

multiple sclerosis (ms) is a chronic inflammatory demyelinating disease of the central nervous system that inflammation, demyelination, oligodendrocyte loss, gliosis, axonal injury and neurodegeneration are the main histopathological hallmarks of the disease. although ms was classically thought as a demyelinating disease, but axonal injury occurs commonly in acute inflammatory lesions. in ms mi...

Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system that inflammation, demyelination, oligodendrocyte loss, gliosis, axonal injury and neurodegeneration are the main histopathological hallmarks of the disease. Although MS was classically thought as a demyelinating disease, but axonal injury occurs commonly in acute inflammatory lesions. In MS mi...

Mitochondrial disorders are clinical phenotypes associated with mitochondrial dysfunction, which can be caused by mutations in mitochondrial DNA (mtDNA) or nuclear genes. In this review, we summarized the pathogenic mutations of nuclear genes associated with mitochondrial disorders. These nuclear genes encode, components of mitochondrial translational machinery and structural subunits and assem...

the autism spectrum disorders (asd) are amongst the most heritable complex disorders. although there have been many efforts to locate the genes associated with asd risk, many has been remained to be disclosed about the genetics of asd. scrutiny's have only disclosed a small number of de novo and inherited variants significantly associated with susceptibility to asd. these only comprise a s...

Mitochondrial disorders are a clinically heterogeneous group of disorders that are caused by defects in the respiratory chain, the metabolic pathway of the adenosine tri-phosphate (ATP) production system. Epilepsy is a common and important feature of these disorders and its management can be challenging. Epileptic seizures in the context of mitochondrial disease are usually treated with convent...

Aims Mitochondrial diseases are a heterogeneous group of genetic disorders that result from dysfunction of the respiratory chain. The endocrine disorders such as diabetes mellitus, hypoparathyroidism, hypothyroidism and growth hormone deficiency have been described in patients with mitochondrial DNA mutations. Among these, patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stro...