What is mitochondrial encephalopathy?
Mitochondrial encephalopathy, lactate acidosis and stroke syndrome (molas) occurs when mitochondrial deoxyribonucleic acid (DNA) is subject to mutation, causing insufficient energy production in cells. Patients can obtain syndrome, but the disorder often passes from the mother. The age of onset varies, with patients show symptoms at the age of three months, while others have no problems until the past for 60 years. However, most individuals who have syndrome show symptoms 20 years ago. Since all body cells contain mitochondria, secondary symptoms may occur anywhere in the body, but generally they are multi -system problems.
cells usually contain hundreds to thousands of organelles known as mitochondria. Structures produce energy through the electron transport chain that synthesizes proteins to adenosine triphosphate (ATP). DNA mutations that occur in mitochondria are disturbed by different components of this chain and inhibit ATP Formation. PatientsWith diagnosed mitochondrial encephalopathy they usually have mitochondria containing normal DNA and others with mutated DNA. In an effort to compensate for insufficient energy production, abnormal mitochondria is replicated to multiple mitochondria, which also contain genetic mutation.
mitochondrial cytopathy also causes compensation for insufficient energy production through other metabolic processes. The body generally synthesizes glucose to pyruvat and lactic acid during exercise, but in mitochondrial encephalopathy these processes occur at rest, causing milk acidosis. The lack of sufficient cellular energy combined with side products of metabolic processes causes toxins accumulation, leading to cell damage and destruction. Scientists have also found that patients have an unusual amount of intracellular calcium, causing increased cellular membrane excitability.
organs and systemsWe most affected by syndrome are those that require the greatest amount of energy. Patients generally have symptoms that affect the central nervous system, heart and skeletal muscles. Pankreas, liver and kidneys can also be influenced.
Symptoms of the central nervous system associated with mitochondrial encephalopathy include dementia, seizures and abnormalities similar to the stroke that occurs as a result of creating lesions in the brain. Syndrome can also affect sensory nerves, causing blindness or deafness. Damage to nervous and muscle tissue or destruction usually causes loss of muscle tone, spasticity and abnormal movements of the body. The affected cells in the heart may cause guidance disruption, leading to irregular heart rate. Pancreatic connection often leads to diabetes.Leigh syndrome, a series of mitochondrial myopathy, which is also known as subacute necrotizing encephalomyelopathy, affects children for 3 to 12 months and often materializes after viral infection. In addition to affecting the centerThe nervous system and muscle tissue usually includes a heart and respiratory system. Young children who have a disease often die at the age of three from heart or respiratory failure.
specialists diagnose mitochondrial encephalopathy using imaging studies, blood and spinal cord tests and cellular studies. Magnetic resonance imaging (MRI) usually reveals lesions of a heart attack or dead tissue that are not associated with vascular structures. Lees usually develop more often in the back of the brain. In general, blood and spinal fluid abnormalities include elevated amino acid levels of alanine and lactic acid. The cells taken from the muscles reveal red, ragged -looking fibers.
Cell samples obtained from inner mouth and skin generally contain mitochondria with defective DNA. Doctors usually treat patients on individual basis because the symptoms differ from the patient to the patient and affect various body systems. Doctors often prescribe antioxidants, amino acids and VITamin.