Intracerebral Administration of a Ligand-ASO Conjugate Selectively Reduces α-Synuclein Accumulation in Monoamine Neurons of Double Mutant Human A30P*A53T*α-Synuclein Transgenic Mice

Int J Mol Sci. 2021 Mar 13;22(6):2939. doi: 10.3390/ijms22062939.

Abstract

α-Synuclein (α-Syn) protein is involved in the pathogenesis of Parkinson's disease (PD). Point mutations and multiplications of the α-Syn, which encodes the SNCA gene, are correlated with early-onset PD, therefore the reduction in a-Syn synthesis could be a potential therapy for PD if delivered to the key affected neurons. Several experimental strategies for PD have been developed in recent years using oligonucleotide therapeutics. However, some of them have failed or even caused neuronal toxicity. One limiting step in the success of oligonucleotide-based therapeutics is their delivery to the brain compartment, and once there, to selected neuronal populations. Previously, we developed an indatraline-conjugated antisense oligonucleotide (IND-1233-ASO), that selectively reduces α-Syn synthesis in midbrain monoamine neurons of mice, and nonhuman primates. Here, we extended these observations using a transgenic male mouse strain carrying both A30P and A53T mutant human α-Syn (A30P*A53T*α-Syn). We found that A30P*A53T*α-Syn mice at 4-5 months of age showed 3.5-fold increases in human α-Syn expression in dopamine (DA) and norepinephrine (NE) neurons of the substantia nigra pars compacta (SNc) and locus coeruleus (LC), respectively, compared with mouse α-Syn levels. In parallel, transgenic mice exhibited altered nigrostriatal DA neurotransmission, motor alterations, and an anxiety-like phenotype. Intracerebroventricular IND-1233-ASO administration (100 µg/day, 28 days) prevented the α-Syn synthesis and accumulation in the SNc and LC, and recovered DA neurotransmission, although it did not reverse the behavioral phenotype. Therefore, the present therapeutic strategy based on a conjugated ASO could be used for the selective inhibition of α-Syn expression in PD-vulnerable monoamine neurons, showing the benefit of the optimization of ASO molecules as a disease modifying therapy for PD and related α-synucleinopathies.

Keywords: Parkinson’s disease; antisense oligonucleotide; dopamine neurotransmission; double mutant A30P*A53T*; motor deficits; transgenic mouse model; α-synuclein.

MeSH terms

  • Amino Acid Substitution
  • Animals
  • Corpus Striatum / metabolism
  • Corpus Striatum / pathology
  • Disease Models, Animal
  • Dopamine / metabolism
  • Dopaminergic Neurons / metabolism
  • Dopaminergic Neurons / pathology
  • Glycoconjugates / administration & dosage
  • Glycoconjugates / genetics*
  • Glycoconjugates / metabolism
  • Humans
  • Indans / administration & dosage
  • Indans / chemistry
  • Indans / metabolism
  • Injections, Intraventricular
  • Locus Coeruleus / metabolism
  • Locus Coeruleus / pathology
  • Male
  • Mesencephalon / metabolism
  • Mesencephalon / pathology
  • Methylamines / administration & dosage
  • Methylamines / chemistry
  • Methylamines / metabolism
  • Mice
  • Mice, Transgenic
  • Norepinephrine / metabolism
  • Oligonucleotides, Antisense / administration & dosage*
  • Oligonucleotides, Antisense / genetics
  • Oligonucleotides, Antisense / metabolism
  • Parkinson Disease / genetics
  • Parkinson Disease / metabolism
  • Parkinson Disease / pathology
  • Parkinson Disease / therapy*
  • Pars Compacta / metabolism
  • Pars Compacta / pathology
  • Point Mutation*
  • Synaptic Transmission
  • alpha-Synuclein / antagonists & inhibitors*
  • alpha-Synuclein / genetics*
  • alpha-Synuclein / metabolism

Substances

  • Glycoconjugates
  • Indans
  • Methylamines
  • Oligonucleotides, Antisense
  • SNCA protein, human
  • Snca protein, mouse
  • alpha-Synuclein
  • indatraline
  • Dopamine
  • Norepinephrine