The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population

2018 ◽  
Vol 177 (3) ◽  
pp. 346-357 ◽  
Author(s):  
Chris Kay ◽  
Jennifer A. Collins ◽  
Galen E.B. Wright ◽  
Fiona Baine ◽  
Zosia Miedzybrodzka ◽  
...  
Keyword(s):  
General Population ◽  
Molecular Epidemiology ◽  
Allele Frequency ◽  
Huntington Disease ◽  
Intermediate Allele

scholarly journals Allele frequency divergence reveals ubiquitous influence of positive selection in Drosophila

2021 ◽  
Author(s):  
Jason Bertram
Keyword(s):  
Allele Frequency ◽  
Evolutionary Biology ◽  
Polymorphic Locus ◽  
Purifying Selection ◽  
Allele Frequencies ◽  
Intermediate Allele ◽  
Genome Wide ◽  
Signature Of Selection ◽  
Basic Objective ◽  
Genomic Regions

Resolving the role of natural selection is a basic objective of evolutionary biology. It is generally difficult to detect the influence of selection because ubiquitous non-selective stochastic change in allele frequencies (genetic drift) degrades evidence of selection. As a result, selection scans typically only identify genomic regions that have undergone episodes of intense selection. Yet it seems likely such episodes are the exception; the norm is more likely to involve subtle, concurrent selective changes at a large number of loci. We develop a new theoretical approach that uncovers a previously undocumented genome-wide signature of selection in the collective divergence of allele frequencies over time. Applying our approach to temporally-resolved allele frequency measurements from laboratory and wild Drosophila populations, we quantify the selective contribution to allele frequency divergence and find that selection has substantial effects on much of the genome. We further quantify the magnitude of the total selection coefficient (a measure of the combined effects of direct and linked selection) at a typical polymorphic locus, and find this to be large (of order 1%) even though most mutations are not directly under selection. We find that selective allele frequency divergence is substantial at intermediate allele frequencies, which we argue is most parsimoniously explained by positive --- not purifying --- selection. Thus, in these populations most mutations are far from evolving neutrally in the short term (tens of generations), including mutations with neutral fitness effects, and the result cannot be explained simply as a purging of deleterious mutations.

Accounts of Suicidality in the Huntington Disease Community

2012 ◽  
Vol 65 (4) ◽  
pp. 317-334 ◽  
Author(s):  
Michael Halpin
Keyword(s):  
Health Care ◽  
General Population ◽  
Huntington Disease ◽  
Health Professionals ◽  
Rational Suicide ◽  
Academic Literature ◽  
Study Participants ◽  
Mental Pathology ◽  
Disease Community

Health professionals, researchers, and philosophers have debated extensively about suicide. Some believe suicides result from mental pathology, whereas others argue that individuals are capable of rational suicide. This debate is particularly poignant within illness communities, where individuals may be suffering from chronic and incurable conditions. This article engages with these issues by presenting the accounts of 20 individuals with Huntington disease (HD), a fatal degenerative condition, and 10 informal caregivers (e.g., spouses). Suicide is a leading cause of death amongst people with HD, with an incidence rate many times higher than the general population. In contrast to the majority of the academic literature on HD suicidality, study participants did not connect suicide with mental pathology. Instead, they perceived suicide as a response to the realities of living with HD, such as prolonged physiological degeneration and the need for long-term intensive health care. These findings are subsequently discussed in relation to the rational-pathological suicide binary.

scholarly journals Huntington disease reduced penetrance alleles occur at high frequency in the general population

Neurology ◽  
2016 ◽  
Vol 87 (3) ◽  
pp. 282-288 ◽  
Author(s):  
Chris Kay ◽  
Jennifer A. Collins ◽  
Zosia Miedzybrodzka ◽  
Steven J. Madore ◽  
Erynn S. Gordon ◽  
...  
Keyword(s):  
General Population ◽  
Huntington Disease ◽  
High Frequency ◽  
Reduced Penetrance

scholarly journals The Cross Talk between Underlying Mechanisms of Multiple Sclerosis and Epilepsy May Provide New Insights for More Efficient Therapies

2021 ◽  
Vol 14 (10) ◽  
pp. 1031
Author(s):  
Atefeh Rayatpour ◽  
Sahar Farhangi ◽  
Ester Verdaguer ◽  
Jordi Olloquequi ◽  
Jesus Ureña ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
General Population ◽  
Neurodegenerative Diseases ◽  
Cross Talk ◽  
Huntington Disease ◽  
Neurological Disorders ◽  
Epileptic Seizures ◽  
Bidirectional Association ◽  
The Common ◽  
Underlying Mechanisms

Despite the significant differences in pathological background of neurodegenerative diseases, epileptic seizures are a comorbidity in many disorders such as Huntington disease (HD), Alzheimer’s disease (AD), and multiple sclerosis (MS). Regarding the last one, specifically, it has been shown that the risk of developing epilepsy is three to six times higher in patients with MS compared to the general population. In this context, understanding the pathological processes underlying this connection will allow for the targeting of the common and shared pathological pathways involved in both conditions, which may provide a new avenue in the management of neurological disorders. This review provides an outlook of what is known so far about the bidirectional association between epilepsy and MS.

High frequency of intermediate alleles on huntington disease-associated haplotypes in British Columbia's general population

2013 ◽  
Vol 162 (8) ◽  
pp. 864-871 ◽  
Author(s):  
Alicia Semaka ◽  
Chris Kay ◽  
Crystal N. Doty ◽  
Jennifer A. Collins ◽  
Natalie Tam ◽  
...  
Keyword(s):  
General Population ◽  
Huntington Disease ◽  
High Frequency ◽  
Intermediate Alleles

Neurologic features in intermediate allele carriers of Huntington disease

Neurology ◽  
2016 ◽  
pp. 10.1212/WNL.0000000000002958
Author(s):  
Patrick J. Morrison ◽  
Julián Benito-León
Keyword(s):  
Huntington Disease ◽  
Intermediate Allele
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