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The presence of CYP51A1 mutations in patients with congenital cataractsoften accompanied by hepatic or neurological symptomssuggests its dual role in ocular development and systemic homeostasis
This is an inherited genetic disease called pyroglutamic aciduria which manifests as hemolytic anemia and metabolic acidosis, causing neurological disorders and vulnerability to bacterial infections, and which can be classified as mild, moderate or severe depending on the severity of the symptoms
A systematic review of mitochondrial abnormalities in myalgic encephalomyelitis/chronic fatigue syndrome/systemic exertion intolerance disease
33,34 RNA splicing is a crucial step in gene expression, and abnormalities in this process are the main cause of genetic variations and diseases
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