Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies.

ABSTRACT: Aromatic l-amino acid decarboxylase (AADC) deficiency is a complex inherited neurological disorder of monoamine synthesis which results in dopamine and serotonin deficiency. The majority of affected individuals have variable, though often severe cognitive and motor delay, with a complex movement disorder and high risk of premature mortality. For most, standard pharmacological treatment provides only limited clinical benefit. Promising gene therapy approaches are emerging, though may not be either suitable or easily accessible for all patients. To characterize the underlying disease pathophysiology and guide precision therapies, we generated a patient-derived midbrain dopaminergic neuronal model of AADC deficiency from induced pluripotent stem cells. The neuronal model recapitulates key dis

SUBMITTER: Rossignoli G 

PROVIDER: S-EPMC8418346 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature