Early deficits in an in vitro striatal microcircuit model carrying the Parkinson’s GBA-N370S mutation
By onThe results highlight the unique utility of modeling striatal neurons in a modular and highly physiological circuit, which is essential to reveal mechanistic insights of the loss of electrical functional integrity in the striata of GBA1 PD patients.
Scalable, flexible carbon fiber electrode thread arrays for three-dimensional probing of neurochemical activity in deep brain structures of rodents
By onThe authors' CFET array has the potential to unlock a wide range of applications, from uncovering the role of neuromodulators in synaptic plasticity, to addressing safety barriers in clinical translation toward diagnostic and adaptive treatment in PD
Role of autophagy pathway in Parkinson’s disease and related Genetic Neurological disorders
By onThe authors provide a comprehensive overview of the general importance of autophagy in Parkinson’s disease (PD) and related disorders of the central nervous system (CNS).
Scientific Perspectives: Structural Biology of LRRK2 and its Interaction with Microtubules
By onMutations in LRRK2 are linked to Parkinson's disease. LRRK2 regulates membrane trafficking and interacts with microtubules. Recent studies have revealed its cytosolic and microtubule-bound forms using cryo-EM and cryo-ET techniques.
Impact of the dopamine system on long-term cognitive impairment in Parkinson disease: an exploratory study
By onBackground Little is known about the impact of the dopamine system on development of cognitive impairment (CI) in Parkinson disease (PD). Using data from a multi-site, international, prospective cohort study, authors explored the impact of dopamine system-related biomarkers on CI in PD. The study provides preliminary evidence that alterations in the dopamine system predict the development of clinically-relevant, cognitive impairment in Parkinson's disease. If replicated and determined to be causative, they demonstrate that the dopamine system is instrumental to cognitive health status throughout the disease course.
Mechanisms Controlling Selective Elimination of Damaged Lysosomes
By onLysophagy, triggered by membrane rupture, involves galectins binding to lysosomal contents to promote autophagic recycling. Damaged lysosomes are ubiquitylated, leading to autophagosome formation for degradation in healthy lysosomes.
Vesicular dysfunction and pathways to neurodegeneration
By onIn this review, the pathways that have emerged as critical for neuronal survival in the human brain are discussed, illustrating the diversity of proteins and cellular events with three molecular case studies from different neurological diseases.
Highly efficient generation of isogenic pluripotent stem cell models using prime editing
By onPrime editing (PE) simplifies creating human pluripotent stem cell (hPSC) disease models by optimizing mRNA delivery with editing efficiency increased up to 13-fold, enabling correction or introduction of Parkinson's disease mutations in hPSCs.
Subcellular and regional localization of mRNA translation in midbrain dopamine neurons
By onUsing, highly sensitive ribosome-bound RNA sequencing and imaging to characterize the translatome, the authors uncovered local mRNA translation of dopamine synthesis, release, and reuptake machinery in dendrites, but not axons.
Unconventional Initiation of PINK1/Parkin Mitophagy by Optineurin
By onThis work reveals that OPTN mitophagy initiation is mechanistically distinct and highlights the mechanistic plasticity of selective autophagy pathways.
Parkinson’s VPS35[D620N] mutation induces LRRK2-mediated lysosomal association of RILPL1 and TMEM55B
By onThis study uncovers a pathway through which dysfunctional lysosomes resulting from the VPS35 mutation recruit and activate LRRK2 on the lysosomal surface, driving assembly of the RILPL1-TMEM55B complex.
Longitudinal Analysis of Multiple Neurotransmitter Metabolites in Cerebrospinal Fluid in Early Parkinson’s Disease
By onThe aim of this study was quantification of multiple metabolites in CSF from PD versus healthy control subjects (HCs), including longitudinal analysis. Baseline levels of homovanillic acid (HVA) and 3,4-dihydroxyphenylacetic acid (DOPAC) were lower in individuals with PD compared with HCs. HVA levels correlated with Movement Disorder Society Unified Parkinson's Disease Rating Scale total scores (P
ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress
By onRecessive loss-of-function mutations in ATP13A2 (PARK9) are associated with a spectrum of neurodegenerative disorders, including Parkinson’s disease (PD). We recently revealed that the late endo-lysosomal transporter ATP13A2 pumps polyamines like spermine into the cytosol, whereas ATP13A2 dysfunction causes lysosomal polyamine accumulation and rupture. Here, we investigate how ATP13A2 provides protection against mitochondrial toxins such as rotenone, an environmental PD risk factor. Rotenone promoted mitochondrial-generated superoxide (MitoROS), which was exacerbated by ATP13A2 deficiency in SH-SY5Y cells and patient-derived fibroblasts, disturbing mitochondrial functionality and inducing toxicity and cell death. Moreover, ATP13A2 knockdown induced an ATF4-CHOP-dependent stress response following rotenone exposure. MitoROS and ATF4-CHOP were blocked by MitoTEMPO, a mitochondrial antioxidant, suggesting that the impact of ATP13A2 on MitoROS may relate to the antioxidant properties of spermine. Pharmacological inhibition of intracellular polyamine synthesis with α-difluoromethylornithine (DFMO) also increased MitoROS and ATF4 when ATP13A2 was deficient. The polyamine transport activity of ATP13A2 was required for lowering rotenone/DFMO-induced MitoROS, whereas exogenous spermine quenched rotenone-induced MitoROS via ATP13A2. Interestingly, fluorescently labeled spermine uptake in the mitochondria dropped as a consequence of ATP13A2 transport deficiency. Our cellular observations were recapitulated in vivo, in a Caenorhabditis elegans strain deficient in the ATP13A2 ortholog catp-6. These animals exhibited a basal elevated MitoROS level, mitochondrial dysfunction, and enhanced stress response regulated by atfs-1, the C. elegans ortholog of ATF4, causing hypersensitivity to rotenone, which was reversible with MitoTEMPO. Together, our study reveals a conserved cell protective pathway that counters mitochondrial oxidative stress via ATP13A2-mediated lysosomal spermine export.
Delivery of RNA Therapeutics: The Great Endosomal Escape!
By onRNA therapeutics show promise in treating various diseases by targeting specific genes without needing prior protein knowledge. Overcoming cellular defenses like endosomal entrapment is crucial for their widespread use in treating diseases.
PINK1: From Parkinson’s disease to mitophagy and back again
By onThis perspective discusses the implications of a 2010 PLOS Biology paper (https://doi.org/10.1371/journal.pbio.1000298) that shed light on the functional importance of PINK1 in the mitophagy cascade.
P5B-ATPases in the mammalian polyamine transport system and their role in disease
By onPolyamines (PAs) are physiologically relevant molecules that are ubiquitous in all organisms. The vitality of PAs to the healthy functioning of a cell is due to their polycationic nature causing them to interact with a vast plethora of cellular players and partake in numerous cellular pathways. Naturally, the homeostasis of such essential molecules is tightly regulated in a strictly controlled interplay between intracellular synthesis and degradation, uptake from and secretion to the extracellular compartment, as well as intracellular trafficking. Not surprisingly, dysregulated PA homeostasis and signaling are implicated in multiple disorders, ranging from cancer to neurodegeneration; leading many to propose rectifying the PA balance as a potential therapeutic strategy. Despite being well characterized in bacteria, fungi and plants, the molecular identity and properties of the PA transporters in animals are poorly understood. This review brings together the current knowledge of the cellular function of the mammalian PA transport system (PTS). We will focus on the role of P5B-ATPases ATP13A2-5 which are PA transporters in the endosomal system that have emerged as key players in cellular PA uptake and organelle homeostasis. We will discuss recent breakthroughs on their biochemical and structural properties as well as their implications for disease and therapy.
In situ structural analysis reveals membrane shape transitions during autophagosome formation
By onThe authors combined cell biology with correlative cryo-electron tomography in yeast cells to show a high resolution stepwise structural progression of autophagosome biogenesis.
Underrepresented Populations in Parkinson’s Genetics Research: Current Landscape and Future Directions
By onThis systematic review provides an overview of research involving Parkinson's disease (PD) genetics in underrepresented populations (URP) and sets a baseline to measure the future impact of current efforts in those populations.
Membrane remodeling properties of the Parkinson’s disease protein LRRK2
By onPreprint: The authors examine how purified LRRK2 directly binds acidic lipid bilayers in a cell-free system and can deform them into narrow tubules in a guanylnucleotide-dependent but ATP-independent way.
Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis.
By onHomozygous mutations of granulin precursor (GRN) lead to neuronal ceroid lipofuscinosis1, a severe neurodevelopmental disease, in humans and neuroinflammation in mice2. Haploinsufficiency of GRN almost invariably causes frontotemporal dementia (FTD)3,4. The GRN locus produces progranulin (PGRN), a lysosomal precursor protein that is cleaved to granulin peptides5,6. Despite intensive investigation, the function of granulins and the reason why their absence causes neurodegeneration remain unclear. Here, we investigated PGRN function in lipid degradation, a major function of lysosomes. We show that PGRN-knockout human cells, PGRN-deficient murine brain, and frontal lobes of human brains from patients with GRN mutation-related FTD have increased levels of gangliosides, highly abundant sialic acid–containing glycosphingolipids (GSL) that are degraded in lysosomes. Probing how PGRN deficiency causes these changes, we found normal levels and activities of enzymes that catabolize gangliosides. However, levels of bis(monoacylglycero)phosphate (BMP), a lysosomal lipid required for ganglioside catabolism7, were markedly reduced in PGRN-deficient cells and patient brain tissues. These data indicate that granulins are required to maintain BMP levels, which regulate ganglioside catabolism, and that PGRN deficiency in lysosomes leads to gangliosidosis. This aberrant accumulation of gangliosides may contribute to neuroinflammation and neurodegeneration susceptibility.