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Hereditary Spastic Paraplegia

All articles tagged with #hereditary spastic paraplegia

science3 months ago

DDHD2's Role in Supplying Saturated Fats for Brain Energy and Function

The study reveals that DDHD2 enzyme releases saturated fatty acids like myristic, palmitic, and stearic acids, which fuel mitochondrial beta-oxidation to support neuronal energy production. Loss of DDHD2 impairs this pathway, leading to reduced ATP, mitochondrial dysfunction, and neurological deficits akin to hereditary spastic paraplegia. Supplementing with CoA-conjugated fatty acids restores mitochondrial function and may offer a therapeutic approach for HSP54.