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Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson’s disease

Abstract (Expand)

Abstract Rare variants in the beta-glucocerebrosidase gene ( GBA1 ) are common genetic risk factors for alpha synucleinopathy, which often manifests clinically as GBA-associated Parkinson’s disease …hich often manifests clinically as GBA-associated Parkinson’s disease (GBA-PD). Clinically, GBA-PD closely mimics idiopathic PD, but it may present at a younger age and often aggregates in families. Most carriers of GBA variants are, however, asymptomatic. Moreover, symptomatic PD patients without GBA variant have been reported in families with seemingly GBA-PD. These observations obscure the link between GBA variants and PD pathogenesis and point towards a role for unidentified additional genetic and/or environmental risk factors or second hits in GBA-PD. In this study, we explored whether rare genetic variants may be additional risk factors for PD in two families segregating the PD-associated GBA1 variants c.115+1G>A (ClinVar ID: 93445) and p.L444P (ClinVar ID: 4288). Our analysis identified rare genetic variants of the HSP70 co-chaperone DnaJ homolog subfamily B member 6 (DNAJB6) and lysosomal protein prosaposin (PSAP) as additional factors possibly influencing PD risk in the two families. In comparison to the wild-type proteins, variant DNAJB6 and PSAP proteins show altered functions in the context of cellular alpha-synuclein homeostasis when expressed in reporter cells. Furthermore, the segregation pattern of the rare variants in the genes encoding DNAJB6 and PSAP indicated a possible association with PD in the respective families. The occurrence of second hits or additional PD cosegregating rare variants has important implications for genetic counseling in PD families with GBA1 variant carriers and for the selection of PD patients for GBA targeted treatments.

Authors: Muhammad Aslam, Nirosiya Kandasamy, Anwar Ullah, Nagarajan Paramasivam, Mehmet Ali Öztürk, Saima Naureen, Abida Arshad, Mazhar Badshah, Kafaitullah Khan, Muhammad Wajid, Rashda Abbasi, Muhammad Ilyas, Roland Eils, Matthias Schlesner, Rebecca C. Wade, Nafees Ahmad, Jakob von Engelhardt

Date Published: 1st Dec 2021

Publication Type: Journal

Weighing stars from birth to death: mass determination methods across the HRD

Abstract

Not specified

Authors: Aldo Serenelli, Achim Weiss, Conny Aerts, George C. Angelou, David Baroch, Nate Bastian, Paul G. Beck, Maria Bergemann, Joachim M. Bestenlehner, Ian Czekala, Nancy Elias-Rosa, Ana Escorza, Vincent Van Eylen, Diane K. Feuillet, Davide Gandolfi, Mark Gieles, Léo Girardi, Yveline Lebreton, Nicolas Lodieu, Marie Martig, Marcelo M. Miller Bertolami, Joey S. G. Mombarg, Juan Carlos Morales, Andrés Moya, Benard Nsamba, Krešimir Pavlovski, May G. Pedersen, Ignasi Ribas, Fabian R. N. Schneider, Victor Silva Aguirre, Keivan G. Stassun, Eline Tolstoy, Pier-Emmanuel Tremblay, Konstanze Zwintz

Date Published: 1st Dec 2021

Publication Type: Journal

Metallicity-dependent nucleosynthetic yields of Type Ia supernovae originating from double detonations of sub- M Ch white dwarfs

Abstract

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Authors: Sabrina Gronow, Benoit Côté, Florian Lach, Ivo R. Seitenzahl, Christine E. Collins, Stuart A. Sim, Friedrich K. Röpke

Date Published: 1st Dec 2021

Publication Type: Journal

Vorhersagen sind schwer, vor allem die Zukunft betreffend: Kurzzeitprognosen in der Pandemie

Abstract

Not specified

Authors: Johannes Bracher, Daniel Wolffram, Tilmann Gneiting, Melanie Schienle

Date Published: 1st Dec 2021

Publication Type: Journal

The sum of Lagrange numbers

Abstract

Not specified

Authors: Jonah Gaster, Brice Loustau

Date Published: 1st Dec 2021

Publication Type: Journal

Longitudinal strand ordering leads to shear thinning in Nafion.

Abstract

hts into the mechanism governing the shear thinning effects observed in Nafion solutions, through the use of non-equilibrium, coarse-grained, molecular dynamic simulations.

Authors: Nicholas Michelarakis, Florian Franz, Konstantinos Gkagkas, Frauke Gräter

Date Published: 24th Nov 2021

Publication Type: Journal

An Extension of the Three Gap Theorem to Interval Exchange Transformations

Abstract (Expand)

The three gap theorem asserts that for any real \\\α\ and any positive integer \\N\ the fractional parts of the sequence \\0, \α, 2\α, \⋯, (N-1)\α\ have at most three distinct gap lengths. In this note, … we extend the three gap theorem to arbitrary orbits of interval exchange transformations, and in the process, we generalize the three gap theorem and a result by Boshernitzan.

Author: Diaaeldin Taha

Date Published: 24th Nov 2021

Publication Type: Journal

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