1. La sindrome da deplezione del DNA mitocondriale: una breve cronistoria.
- Author
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Barocci, Sergio
- Subjects
- *
MITOCHONDRIAL DNA , *GENETIC disorders , *RESPIRATORY insufficiency , *CHROMOSOMES , *MITOCHONDRIA - Abstract
Indi Gregory was an 8-month-old English baby who passed away during the night between November 12 and 13, 2023. She suffered from mitochondrial DNA depletion syndrome in its encephalomyopathic form, a rare and severe neurometabolic disorder. In this condition, the mitochondria in her cells did not produce enough energy, preventing the proper development of her body, particularly her brain and heart. The disease is incurable and typically leads to death within the first two years of life, with treatments only able to alleviate symptoms. Discovered in 2013, the disease is caused by mutations in the SLC25A1 gene on chromosome 22, which is responsible for producing the mitochondrial citrate transporter. It is a recessive genetic disorder that manifests when a child inherits two copies of the mutated gene from their parents. If both parents are carriers, each child has a 25% chance of being affected, a 50% chance of being a healthy carrier, and a 25% chance of being healthy and not a carrier of the mutation. The disorder is progressive and presents with severe encephalopathy, seizures from birth, respiratory failure, and brain malformations. [ABSTRACT FROM AUTHOR]
- Published
- 2024