Incurable Leigh Syndrome: German scientists create first human model for rare disease ...Middle East

Leigh syndrome is the most severe mitochondrial disease in children. It usually leads to death within the first years of life. No causative treatment is currently available. One of the genes frequently mutated in patients is SURF1, which encodes for a protein involved in the process of energy generation in the cells. Now German scientists created first human model for rare disease to start understanding the disease mechanisms and to identify possible targets for treatment. The paper was published today in Nature Communications.

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