Novel recruitment strategy to enrich for LRRK2 mutation carriers

This study was designed to test whether an internet‐based approach could be an effective approach to screen and identify mutation carriers. Individuals with and without PD of AJ ancestry were recruited and consented through an internet‐based study website. An algorithm was applied to a series of screening questions to identify individuals at increased risk to carry the LRRK2 G2019S mutation. About 1000 individuals completed the initial screening. Around 741 qualified for mutation testing and 650 were tested. Seventy‐two individuals carried at least one LRRK2 G2019S mutation; 38 with PD (12.5%) and 34 without (10.1%). Among the AJ PD participants, each affected first‐degree relative increased the likelihood the individual was LRRK2+ [OR = 4.7; 95% confidence interval = (2.4–9.0)]. The same was not observed among the unaffected AJ subjects (P = 0.11). An internet‐based approach successfully screened large numbers of individuals to identify those with risk factors increasing the likelihood that they carried a LRRK2 G2019S mutation. A similar approach could be implemented in other disorders to identify individuals for clinical trials, biomarker analyses and other types of research studies. An internet‐based approach successfully screened large numbers of individuals to identify those with risk factors increasing the likelihood that they carried a LRRK2 G2019S mutation.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research

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ConclusionThese results suggested that TGP can enhance dopaminergic neuron's cell survival in the SNpc in virtue of the activated cAMP/PKA/CREB factor of growth on inhibiting the pathway of second messenger apoptosis as well. In conclusion, the current findings indicate TGP is expected to be a new cure for PD.Graphical abstract
Source: Journal of Ethnopharmacology - Category: Drugs & Pharmacology Source Type: research
ConclusionsIncreased beat-to-beat HRV inLRRK2 G2019S mutation carriers compared with controls and idiopathic PD patients may indicate augmented cardiac autonomic cholinergic activity, suggesting early impairment of central vagal feedback loops in LRRK2-associated PD.
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Gambling disorder is a pathologic condition, resulting from the interaction of multiple risk factors. Among these, dopamine neurotransmission is known for playing a significant role, as seen, for example, in patients using dopamine replacement therapy prescribed for Parkinson disease, in which gambling is considered to be iatrogenic. Considering this, together with the general mechanism of action of antipsychotic drugs, growing attention has recently been dedicated to Aripiprazole and to its partial dopaminergic agonism (reducing D2-receptor hyperactivation in the mesolimbic pathway and improving D2-receptor stimulation in...
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Condition:   Parkinson Disease Intervention:   Drug: HB-adMSC Sponsor:   Hope Biosciences Available
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Abstract Cerebrospinal fluid (CSF) has been considered the key source for the search of biomarkers, in particular for neurological diseases, such as Alzheimer's and Parkinson's disease, since it reflects the state of the central nervous system (CNS). Finding biomarkers in the earliest stages of neurodegenerative diseases has become imperative, since, at the moment, there are no drugs that can reverse these pathological processes. Untargeted metabolomics analysis by liquid chromatography combined with SWATH-MS relative quantification is an emerging approach to search for potential biomarkers. In this chapter, we de...
Source: Mol Biol Cell - Category: Molecular Biology Authors: Tags: Methods Mol Biol Source Type: research
CONCLUSION: No association was found between antihypertensive therapy duration and PD incidence. Further epidemiological studies are needed to compare the effects of subclasses of antihypertensives on PD.
. PMID: 31426904 [PubMed - as supplied by publisher]
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No abstract available
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Source: Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease - Category: Molecular Biology Source Type: research
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