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MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) is one of the family of mitochondrial diseases, which also include MIDD (maternally inherited diabetes and deafness), MERRF syndrome, and Leber's hereditary optic neuropathy.
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions.
Methylmalonic acidemias have varying diagnoses, treatment requirements and prognoses, which are determined by the specific genetic mutation causing the inherited form of the disorder. [3] The first symptoms may begin as early as the first day of life or as late as adulthood. [4] Symptoms can range from mild to life-threatening. [1]
The causes of MERRF syndrome are difficult to determine, but because it is a mitochondrial disorder, it can be caused by the mutation of nuclear DNA or mitochondrial DNA. [3] The classification of this disease varies from patient to patient, since many individuals do not fall into one specific disease category.
Mitochondrial dysfunction within peripheral nerve tissue results in symptoms including weakness of muscles, numbness, and tingling. [5] Common cardiac manifestations in MELAS syndrome include hypertrophic or dilated cardiomyopathy , arrhythmias including atrial fibrillation and ventricular tachycardia , and hypertension as a result of impaired ...
Mutations in MT-TL1 can result in multiple mitochondrial deficiencies and associated disorders. It is associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes . [5] MELAS is a rare mitochondrial disorder known to affect many parts of the body, especially the nervous system and the brain.
Mitochondrial myopathy literally means mitochondrial muscle disease, muscle disease caused by mitochondrial dysfunction. The mitochondrion is the primary producer of energy in nearly all cells throughout the body. The exception is mature erythrocytes (red blood cells), so that they do not use up the oxygen that they carry.
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a genetic neurodegenerative disease that causes dystonia, parkinsonism, and iron accumulation in the brain. [ 1 ] [ 2 ] It is caused by mutations to the gene C19orf12 , which has unknown function.