Genetic Test
The PITRM1 gene encodes an enzyme located in the mitochondrial matrix responsible for degrading targeting sequences and short peptides, including the clearance of amyloid-β (Aβ).
Mutations in PITRM1 lead to mitochondrial dysfunction and accumulation of Aβ, contributing to neurodegeneration.
In mouse models, complete loss of PITRM1 is lethal, while partial deficiency results in motor control abnormalities and neurodegeneration.
Human brain organoid studies have also demonstrated that reduced PITRM1 function induces pathological changes resembling Alzheimer's disease.
Disease Description
Epilepsy caused by PITRM1 mutations is a fatal early-onset condition beginning between 6 to 12 weeks of age, characterized by mitochondrial dysfunction and neurodegeneration (including amyloid-β accumulation and neuronal necrosis).
Seizures rapidly worsen, progressing to status epilepticus, and most affected animals die within weeks.
