scholarly journals 97 Deletion of taci protects against autoimmune disease in lupus-prone mouse models with different disease mechanisms

2017 ◽  
Author(s):  
EX Lim ◽  
W Figgett ◽  
F Mackay ◽  
M Hibbs
Keyword(s):  
Autoimmune Disease ◽  
Mouse Models ◽  
Disease Mechanisms

scholarly journals Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

Cells ◽  
2021 ◽  
Vol 10 (11) ◽  
pp. 3158
Author(s):  
Tomáš Zárybnický ◽  
Anne Heikkinen ◽  
Salla M. Kangas ◽  
Marika Karikoski ◽  
Guillermo Antonio Martínez-Nieto ◽  
...  
Keyword(s):  
Human Physiology ◽  
Animal Models ◽  
Mouse Models ◽  
Rare Diseases ◽  
Disease Modeling ◽  
Common Disease ◽  
Molecular Pathways ◽  
Finnish Population ◽  
Disease Mechanisms ◽  
Human Disorders

The modification of genes in animal models has evidently and comprehensively improved our knowledge on proteins and signaling pathways in human physiology and pathology. In this review, we discuss almost 40 monogenic rare diseases that are enriched in the Finnish population and defined as the Finnish disease heritage (FDH). We will highlight how gene-modified mouse models have greatly facilitated the understanding of the pathological manifestations of these diseases and how some of the diseases still lack proper models. We urge the establishment of subsequent international consortiums to cooperatively plan and carry out future human disease modeling strategies. Detailed information on disease mechanisms brings along broader understanding of the molecular pathways they act along both parallel and transverse to the proteins affected in rare diseases, therefore also aiding understanding of common disease pathologies.

Autoimmune Disease: Mechanisms

2015 ◽  
pp. 1-7
Author(s):  
DeLisa Fairweather ◽  
Robert Root-Bernstein
Keyword(s):  
Autoimmune Disease ◽  
Disease Mechanisms

LRRK2 mouse models: dissecting the behavior, striatal neurochemistry and neurophysiology of PD pathogenesis

2017 ◽  
Vol 45 (1) ◽  
pp. 113-122 ◽  
Author(s):  
Mattia Volta ◽  
Heather Melrose
Keyword(s):  
Mouse Models ◽  
Animal Behavior ◽  
Research Question ◽  
Critical Approach ◽  
Drug Effectiveness ◽  
Disease Mechanisms ◽  
Mouse Modeling ◽  
Familial Parkinson’S Disease ◽  
Neuroprotective Therapies ◽  
Genetic Mouse Models

Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common genetic cause of familial Parkinson's disease (PD), resembling the sporadic disorder. Intensive effort has been directed toward LRRK2 mouse modeling and investigation, aimed at reproducing the human disease to inform mechanistic studies of pathogenesis and design of neuroprotective therapies. The physiological function of LRRK2 is still under exploration, but a clear role in striatal neurophysiology and animal behavior has emerged. Alterations in LRRK2 impair dopamine (DA) transmission, regulation and signaling, in addition to corticostriatal synaptic plasticity. Consistently, several subtle abnormalities in motor and nonmotor abilities have been demonstrated in LRRK2 genetic mouse models, generally paralleling preclinical symptoms of early DA dysfunction. However, the variability in model design and phenotypes observed requires a critical approach in interpreting the results, adapting the model used to the specific research question. Etiologically appropriate knockin mice might represent the ultimate animal model in which to study early disease mechanisms and therapies as well as to investigate drug effectiveness and off-target consequences.

scholarly journals Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum

2016 ◽  
Vol 37 (6) ◽  
pp. 609-635 ◽  
Author(s):  
Elena J. Tucker ◽  
Sonia R. Grover ◽  
Anne Bachelot ◽  
Philippe Touraine ◽  
Andrew H. Sinclair
Keyword(s):  
Mouse Models ◽  
Genetic Basis ◽  
Current Knowledge ◽  
Premature Ovarian Insufficiency ◽  
Ovarian Activity ◽  
Substantial Evidence ◽  
Ovarian Insufficiency ◽  
Phenotypic Spectrum ◽  
Disease Mechanisms

Abstract Premature ovarian insufficiency (POI) is one form of female infertility, defined by loss of ovarian activity before the age of 40 and characterized by amenorrhea (primary or secondary) with raised gonadotropins and low estradiol. POI affects up to one in 100 females, including one in 1000 before the age of 30. Substantial evidence suggests a genetic basis for POI; however, the majority of cases remain unexplained, indicating that genes likely to be associated with this condition are yet to be discovered. This review discusses the current knowledge of the genetic basis of POI. We highlight genes typically known to cause syndromic POI that can be responsible for isolated POI. The role of mouse models in understanding POI pathogenesis is discussed, and a thorough list of candidate POI genes is provided. Identifying a genetic basis for POI has multiple advantages, such as enabling the identification of presymptomatic family members who can be offered counseling and cryopreservation of eggs before depletion, enabling personalized treatment based on the cause of an individual's condition, and providing better understanding of disease mechanisms that ultimately aid the development of improved treatments.

scholarly journals Mouse models of neurodegeneration: Know your question, know your mouse

2019 ◽  
Vol 11 (493) ◽  
pp. eaaq1818 ◽  
Author(s):  
Elizabeth M. C. Fisher ◽  
David M. Bannerman
Keyword(s):  
Neurodegenerative Disease ◽  
Mouse Models ◽  
Mutant Mouse ◽  
Mouse Strains ◽  
Disease Mechanisms ◽  
Research Questions

Many mutant mouse strains have been developed as models to investigate neurodegenerative disease in humans. However, variability in results among studies using these mouse strains has led to questions about the value of these models. Here, we appraise various mouse models for dissecting neurodegenerative disease mechanisms and emphasize the importance of asking appropriate research questions. In therapeutic studies, we suggest that understanding variability among and within mouse models is crucial for preventing translational failures in human patients.

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