scholarly journals Rare genetic mutations shed light on the pathogenesis of Parkinson disease

2003 ◽  
Vol 111 (2) ◽  
pp. 145-151 ◽  
Author(s):  
Ted M. Dawson ◽  
Valina L. Dawson
Keyword(s):  
Parkinson Disease ◽  
Genetic Mutations ◽  
Shed Light

Genetic basis of Parkinson disease

2010 ◽  
Vol 28 (1) ◽  
pp. E7 ◽  
Author(s):  
Georgia Xiromerisiou ◽  
Efthimios Dardiotis ◽  
Vaïa Tsimourtou ◽  
Persa Maria Kountra ◽  
Konstantinos N. Paterakis ◽  
...  
Keyword(s):  
Parkinson Disease ◽  
Molecular Mechanisms ◽  
Autosomal Recessive Inheritance ◽  
Alpha Synuclein ◽  
Collaborative Studies ◽  
Common Genetic Variants ◽  
Cellular Pathways ◽  
Meta Analyses ◽  
Shed Light ◽  
Made In

Over the past few years, considerable progress has been made in understanding the molecular mechanisms of Parkinson disease (PD). Mutations in certain genes are found to cause monogenic forms of the disorder, with autosomal dominant or autosomal recessive inheritance. These genes include alpha-synuclein, parkin, PINK1, DJ-1, LRRK2, and ATP13A2. The monogenic variants are important tools in identifying cellular pathways that shed light on the pathogenesis of this disease. Certain common genetic variants are also likely to modulate the risk of PD. International collaborative studies and meta-analyses have identified common variants as genetic susceptibility risk/protective factors for sporadic PD.

scholarly journals Need for NAD+: Focus on Striated Muscle Laminopathies

Cells ◽  
2020 ◽  
Vol 9 (10) ◽  
pp. 2248
Author(s):  
Déborah Cardoso ◽  
Antoine Muchir
Keyword(s):  
Nuclear Envelope ◽  
Striated Muscle ◽  
Current Knowledge ◽  
Nuclear Lamina ◽  
Genetic Mutations ◽  
Therapeutic Approaches ◽  
Gene Encoding ◽  
Differentiated Cells ◽  
Shed Light

Laminopathies are a heterogeneous group of rare diseases caused by genetic mutations in the LMNA gene, encoding A-type lamins. A-type lamins are nuclear envelope proteins which associate with B-type lamins to form the nuclear lamina, a meshwork underlying the inner nuclear envelope of differentiated cells. The laminopathies include lipodystrophies, progeroid phenotypes and striated muscle diseases. Research on striated muscle laminopathies in the recent years has provided novel perspectives on the role of the nuclear lamina and has shed light on the pathological consequences of altered nuclear lamina. The role of altered nicotinamide adenine dinucleotide (NAD+) in the physiopathology of striated muscle laminopathies has been recently highlighted. Here, we have summarized these findings and reviewed the current knowledge about NAD+ alteration in striated muscle laminopathies, providing potential therapeutic approaches.

scholarly journals [LYING LIFE: HOW LIFE DESIGNS LIES AND HOW LIES DESIGN LIFE]

2019 ◽  
Author(s):  
Mario Tanga
Keyword(s):  
Life Sciences ◽  
Primary Factor ◽  
Genetic Mutations ◽  
Video Clips ◽  
Design Life ◽  
Decisive Importance ◽  
Other Information ◽  
Biological World ◽  
Ex Nihilo ◽  
Shed Light

[In this work we will show chance, necessity and, sometimes, opportunity of an abhorred informational alteration and how fake/true are artificial, conventional categories. Information arises with life, and with information arises a gap between reality (or another information that is assumed as original and true) and information that represents, repeats or replaces it. This is a gap and it creates a difference, a duality, a not virtual distance, it opens a space for potential (or unavoidable?) unfaithfulness, incongruities, falsehood. Lie can be meant as alteration, as distortion, as denial, or as creation “ex nihilo” if referred to what (world reality or other information) is assumed as original and authentic. The information (or latter information) is valued comparing it to the primary factor, aiming to find its compliance. Somehow or other, the conformity between these two poles is never full and unconditional. Due to this, life arises with the not eliminable lie “germ” inside. This has advantageous implications. “Untruthful” information has had a decisive importance in evolutionary balance and trending forever. Between life and lie, there is an indissoluble mutuality loop. Our thesis aims to: • Expand the meaning of lie and to draw its continuity (that is different from homology or identity) between biologic sphere and anthropic/cultural one • An appreciation of lie, starting from an investigation that examines its nature, its genetic processes and its function, both in the biological world and in the anthropic one • Show its inseparableness from truth, that is to say the continuity (not homogeneity) between it and the lie, both in the biological world and in the anthropic one • If the lie is meant in the widest sense, it presents some characterizing features. The lie is • Random, that is to say it arises by chance, due to neither predictable nor controllable causes • Necessary, because sometime it occurs in an inescapable way, due to the fact that it is intrinsic of the process of representation and/or of replication Appropriate, because sometimes it is the result of an aimed process and offers benefits if it is implemented. The excursus will be scientifically documented and it will be furnished with various iconography (pictures, video-clips…). It will lead us to adopt a wider, critical and not conventional overlook in considering topics as mimicry (meant in all its types: molecular, cryptic, batesian, müllerian, emsleyan, etc.), genetic mutations and evolution, sensorial (not only visual) illusions and hallucinations, the Theory of Games, the referentiality in semantics and in semiotics, gnoseologic, logic, heuristic, etic, aesthetic aspects of truthfulness. This work has no pretension to be a treatise, but it tries to shed light on what brings together so different aspects, in critical, epistemological and methodological ways. We will indicate historical (of very different periods) and authorial references of presented argumentations, thanks to drawing from several fields of knowledge and to comparing them: philosophy, figurative arts, life sciences, semiotics, literature, cinematography… All these argumentations will allow us to conclude that lie cannot be the enemy to be loathed. It must not be disapproved in a prejudicial way, but it deserves listening, attention and… esteem!... This should dispel or re-define the sense, the meaning and the function of (presumed) truth. It, both revealed and demonstrated, is often assumed as dogmatically absolute and (guiltily) it is interpreted as myth or it is mystified].

Elucidating cyclic AMP signaling in subcellular domains with optogenetic tools and fluorescent biosensors

2019 ◽  
Vol 47 (6) ◽  
pp. 1733-1747 ◽  
Author(s):  
Christina Klausen ◽  
Fabian Kaiser ◽  
Birthe Stüven ◽  
Jan N. Hansen ◽  
Dagmar Wachten
Keyword(s):  
Cyclic Amp ◽  
Adenosine Monophosphate ◽  
Adenylyl Cyclases ◽  
Temporal Precision ◽  
Fluorescent Biosensors ◽  
Subcellular Domains ◽  
Spatio Temporal ◽  
Hydrolysis Of ◽  
Shed Light ◽  
Cyclic Amp Signaling

The second messenger 3′,5′-cyclic nucleoside adenosine monophosphate (cAMP) plays a key role in signal transduction across prokaryotes and eukaryotes. Cyclic AMP signaling is compartmentalized into microdomains to fulfil specific functions. To define the function of cAMP within these microdomains, signaling needs to be analyzed with spatio-temporal precision. To this end, optogenetic approaches and genetically encoded fluorescent biosensors are particularly well suited. Synthesis and hydrolysis of cAMP can be directly manipulated by photoactivated adenylyl cyclases (PACs) and light-regulated phosphodiesterases (PDEs), respectively. In addition, many biosensors have been designed to spatially and temporarily resolve cAMP dynamics in the cell. This review provides an overview about optogenetic tools and biosensors to shed light on the subcellular organization of cAMP signaling.

Sentence-Based Experience Logging in New Hearing Aid Users

2020 ◽  
Vol 29 (3S) ◽  
pp. 631-637
Author(s):  
Katja Lund ◽  
Rodrigo Ordoñez ◽  
Jens Bo Nielsen ◽  
Dorte Hammershøi
Keyword(s):  
Hearing Aid ◽  
Patient Experiences ◽  
Online Tool ◽  
Rehabilitation Process ◽  
Hearing Rehabilitation ◽  
Clinical Observations ◽  
Hearing Aid Use ◽  
Wide Range ◽  
Insight Into ◽  
Shed Light

Purpose The aim of this study was to develop a tool to gain insight into the daily experiences of new hearing aid users and to shed light on aspects of aided performance that may not be unveiled through standard questionnaires. Method The tool is developed based on clinical observations, patient experiences, expert involvement, and existing validated hearing rehabilitation questionnaires. Results An online tool for collecting data related to hearing aid use was developed. The tool is based on 453 prefabricated sentences representing experiences within 13 categories related to hearing aid use. Conclusions The tool has the potential to reflect a wide range of individual experiences with hearing aid use, including auditory and nonauditory aspects. These experiences may hold important knowledge for both the patient and the professional in the hearing rehabilitation process.

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