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Biology subjects

Guerra, A.

Publications and source records attributed to Guerra, A..

5 recordsLinked to original sources

Unfolding of the disease-linked bank vole prion protein E200K in the context of PrPSc propagation

The elucidation of the atomistic structure of PrPSc has, disappointingly, not revealed the mechanism underlying prion propagation. This is because PrPSc has been shown to be a standard amyloid, and as such, it can only template a polypeptide chain that is unfolded. Therefore, while PrPSc can easily template the disordered ~90-120 domain of an incoming PrPC molecule, it does not have any obvious capacity to template its ~121-231 folded domain (FD). The FD needs to accommodate into the ~121-230 PrPSc surface, an inert "Procrustean bed". We have recently proposed that unfolding of the FD is a prerequisite for its conversion to the PrPSc conformation and using experimental and computational methods identified the likely early events of such process using bank vole (BV)PrP(90-231) as our working model. We concluded that a key early event is the destabilization of the short {beta}1-{beta}2 assembly, and that the segment contiguous to the disordered tail, ~121-140, encompassing {beta}1 and its adjacent coils, is the most likely region to unfold first. In the present study we applied the same methodology to the disease-related PrP mutant E200K. E200K is the most prevalent mutation leading to familial prion disease in humans, yet the stability of its FD is only marginally lower compared to that of the protein with the wild type (wt) sequence. We, therefore, aimed at assessing whether the early unfolding events of BVPrPC(E200K) are similar or different to those of wtBVPrPC and whether such early unfolding route might provide insight into the extreme capacity of PrPC(E200K) to spontaneously generate PrPSc. It should be noted that generation and propagation of PrPSc are distinct phenomena, even though both are mechanistically related and dependent on conformational changes in PrPC. Our data show that early unfolding events of BVPrPC(E200K) are essentially similar to those of wt BVPrPC. However, interesting nuances exist.

biochemistry↗

Unfold to refold: Tracking the initial steps of PrPC unfolding in the context of PrPSc propagation

It might have been believed that elucidation of the atomistic structure of PrPSc would lead to an immediate understanding of the mechanism of prion propagation. However, PrPSc, now known to be a "simple" amyloid, can just template a previously unfolded polypeptide chain. Therefore, PrPSc can easily template the disordered [~]90-120 domain of an incoming PrPC molecule, but not its [~]121-231 folded domain (FD). The FD needs to accommodate into the [~]121-230 PrPSc surface, an inert "procrustean bed". Thus, a mechanism for concerted unfolding/refolding of the FD must exist, with FD unfolding as a key element. To explore how this might happen, we performed thermal unfolding of recombinant bank vole PrPC(90-231), that is a universal PrPSc propagator PrPSc, tracking changes at the residue level with solution NMR to pinpoint early unfolding propensity. Our data suggest that a key early event is the destabilization of the short {beta}1-{beta}2 assembly, and that the segment contiguous to the disordered tail, [~]121-140, encompassing {beta}1 and its adjacent coils, is the most likely region to unfold first. Spectroscopic data obtained at higher temperatures suggest that portions of alpha helix 2 are likely the last elements of the FD to unfold and refold into the PrPSc conformation. Molecular Dynamics simulations assisted the interpretation of these changes and suggest separation of 1 from the rest of the FD ensemble. Our data provide a conceivable timeline of the early events in PrPSc-assisted conversion of PrPC and should serve as a starting framework to develop a future atomistic model of PrPSc propagation.

biochemistry↗

Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations

Metachromatic leukodystrophy (MLD) is a fatal lysosomal storage disease (LSD) characterized by the deficient enzymatic activity of arylsulfatase A (ARSA). Combined autologous hematopoietic stem cell transplant (HSCT) with lentiviral (LV) based gene therapy has great potential to treat MLD. However, if enzyme production is inadequate, this could result in continued loss of motor function, implying a high vector copy number (VCN) requirement for optimal enzymatic output. This may place children at increased risk for genomic toxicity due to higher VCN. We increased the expression of ARSA cDNA at single integration by generating novel LVs, optimizing ARSA expression, and enhancing safety. In addition, our vectors achieved optimal transduction in mouse and human HSC with minimal multiplicity of infection (MOI). Our top-performing vector (EA1) showed at least 4X more ARSA activity than the currently EU-approved vector and a superior ability to secrete vesicle-associated ARSA, a critical modality to transfer functional enzymes from microglia to oligodendrocytes. Three-month-old Arsa-KO MLD mice transplanted with Arsa-KO BM cells transduced with 0.6 VCN of EA1 demonstrated behavior and CNS histology matching WT mice. Our novel vector boosts efficacy while improving safety as a robust approach for treating early symptomatic MLD patients.

molecular biology↗

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mousemodel of Multiple Sulfatase Deficiency

Multiple sulfatase deficiency (MSD) is a severe, lysosomal storage disorder caused by pathogenic variants in the gene SUMF1, encoding the sulfatase modifying factor formylglycine-generating enzyme. Patients with MSD exhibit functional deficiencies in all cellular sulfatases. The inability of sulfatases to break down their substrates leads to progressive and multi-systemic complications in patients, similar to those seen in single-sulfatase disorders such as metachromatic leukodystrophy and mucopolysaccharidoses IIIA. Here, we aimed to determine if hematopoietic stem cell transplant with ex vivo SUMF1 lentiviral gene therapy could improve outcomes in a clinically relevant mouse model of MSD. We first tested our approach in MSD patient-derived cells and found that our SUMF1 lentiviral vector improved protein expression, sulfatase activities, and glycosaminoglycan accumulation. In vivo, we found that our gene therapy approach rescued biochemical deficits, including sulfatase activity and glycosaminoglycan accumulation, in affected organs of MSD mice treated post-symptom onset. In addition, treated mice demonstrated improved neuroinflammation and neurocognitive function. Together, these findings suggest that SUMF1 HSCT-GT can improve both biochemical and functional disease markers in the MSD mouse.

neuroscience↗

Mathematical modeling of metastasis, a feasible way to detect the weakness

AimCancer is one of the main causes of death worldwide. 90% of deaths caused by this disease occur due to metastasis. Two models are proposed that rescue fundamental aspects of metastasis, such as EMT (epithelial-mesenchymal transition), extravasation and colonization. MethodsTo evaluate the complexity, the Lyapunov exponents, the eigenvalues of the Jacobian matrix (stability analysis) and the Kaplan York dimension were calculated. ResultsIt was evidenced that the weakness of the metastasis lies in these stages, which indicates that they constitute potential targets in the search for an effective treatment. ConclusionThe results suggest that strengthening the immune system during EMT as well as its specialization in the detection of DTCs (disseminated tumor cells) can be effective strategies in the treatment of metastasis.

cancer biology↗