Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans.

ABSTRACT:

Objective

X-linked adrenoleukodystrophy is caused by mutations in the peroxisomal half-transporter ABCD1. The most common manifestation is adrenomyeloneuropathy, a hereditary spastic paraplegia of adulthood. The present study set out to understand the role of neuronal ABCD1 in mice and humans with adrenomyeloneuropathy.

Methods

Neuronal expression of ABCD1 during development was assessed in mice and humans. ABCD1-deficient mice and human brain tissues were examined for corresponding pathology. Next, we silenced ABCD1 in cholinergic Sh-sy5y neurons to investigate its impact on neuronal function. Finally, we tested adeno-associated virus vector-mediated ABCD1 delivery to the brain in mice with adrenomyeloneuropathy.

Results

ABCD1 is highly expressed in neurons located i

SUBMITTER: Gong Y 

PROVIDER: S-EPMC10949091 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature