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Abnormal mitochondrial number
- ... and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of mitochondrial trifunctional protein deficiency. More About This Health Condition In a small number of cases, HADHA mutations appear to increase a ...
- ... proteins that carry out oxidative phosphorylation. A small number of people with the features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) ...
- ... MERRF. They continue to investigate the effects of mitochondrial gene mutations in various tissues, particularly in the brain.A small number of people with a mutation in the MT- ...
- ... not have the genetic alteration. The proportion of abnormal blood cells in the body affects the severity of the signs and symptoms of PNH.Some of the PIGA gene variants alter the numbers or types of protein building blocks (amino acids) ...
- ... activity. Lack of SDH enzyme activity results in abnormal hypoxia signaling and formation of tumors. ... succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial precursor ...
- ... SDHA gene have been identified in a small number of people with Leigh syndrome, a progressive brain ... of the SDH enzyme, impairing the ability of mitochondria to produce energy. It is not known, however, ...
- ... A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2. Neurology. 2010 Sep 28;75( ... Citation on PubMed Narendra DP, Youle RJ. Targeting mitochondrial dysfunction: role for PINK1 and Parkin in mitochondrial ...