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Batchelor, R.

Publications and source records attributed to Batchelor, R..

2 recordsLinked to original sources

Parkinson's disease LRRK2 mutations dysregulate iron homeostasis and promote oxidative stress and ferroptosis in human neurons and astrocytes

BackgroundIron accumulation is a hallmark of sporadic and familial Parkinsons disease (PD) and correlates with clinical motor symptom severity. The biochemical mechanisms driving iron dyshomeostasis in PD brain and whether these are early or late events in the neurodegenerative process remain unknown. Nigral iron levels in LRRK2-PD patients have been reported to be even higher than in idiopathic PD, and greater in non-manifesting LRRK2 carriers than controls, suggesting that iron accumulation precedes clinical onset in LRRK2-associated PD. However, the cells affected and mechanisms governing iron dyshomeostasis in PD remain unclear. MethodsHere, we investigated multiple independent measures of iron homeostasis in iPSCs, iPSC-derived cortical and dopaminergic neurons, and astrocytes from control and PD patient-derived iPSCs and an isogenic iPSC panel of three independent pathogenic PD mutations. High-content and super-resolution microscopy of iron-specific probes and ICP-MS were used to determine iron content and distribution across different cell types and LRRK2 genotypes. The upstream effectors and downstream consequences of iron dyshomeostasis on ferroptosis signaling were also examined. ResultsWe found that heterozygous LRRK2 mutations dysregulate cellular iron levels across iPSCs, neurons and astrocytes, in a kinase-dependent manner. Lysosomal ferrous iron was specifically and consistently elevated across iPSCs, iPSC-derived cortical and dopaminergic neurons, and astrocytes carrying LRRK2 mutations and rescued by treatment with the selective LRRK2 inhibitor, MLi-2. Importantly, we show that lipid peroxidation and ROS levels are elevated in isogenic LRRK2 mutant neurons, while iron chelation or MLi-2 reduced LRRK2-dependent ROS damage. LRRK2 regulates the function of over a dozen Rab GTPase proteins through direct phosphorylation, and our prior work revealed a unique correlation with Rab8a trafficking and iron. Here, we report that CRISPR/Cas9 knockout of Rab8a recapitulates LRRK2-driven effects on intracellular iron in different cell types and that exogenous Rab8a normalizes lysosomal iron levels in R1441C LRRK2 iPSCs. ConclusionsTogether, our findings demonstrate that LRRK2 mutations disrupt iron homeostasis across multiple cell types, including dopaminergic neurons, and establish a discrete biochemical pathway linking LRRK2 and vulnerability to ferroptosis signaling.

neuroscience↗

Cell type-specific associations with Alzheimer's Disease conserved across racial and ethnic groups

Genomic studies at single-cell resolution have implicated multiple cell types associated with clinical and pathological traits in Alzheimers Disease (AD), but have not examined common features across broad, multi-ethnic populations, and across multiple regions. To bridge this gap, we performed single-nucleus RNA-seq and ATAC-seq profiling of cortical and subcortical brain regions from post-mortem samples across Non-Latin White, African American, and Latin donors (the latter of any race). Using discrete and continuous dissection of molecular programs, we elucidate cell-type-specific glial and neuronal signatures associated with AD across multiple population groups. Notably, we found that multiple microglial (GPNMB+, CD74+, and CR1+ subgroups) and astrocyte (SERPINH1+ and WIF1+ subgroups) signatures are associated with worse clinical and pathological phenotypes across all three population groups. We also report continuous gene expression factors in oligodendrocytes that are not captured by discrete clusters, yet still show strong associations with disease phenotypes. Finally, we observe these discrete cellular identities and continuous gene programs separate cognitively impaired donors into 6 molecularly distinct subgroups that span racial and ethnic population groups. Overall, our study identifies key cell types and gene programs implicated in AD that are shared across population groups, and provides an initial data set that underscores how representative sampling can capture conserved signatures as well as disease heterogeneity, leading to better prioritization of key cell types for further investigation.

neuroscience↗