Simple Procedure for Automatic Detection of Unstable Alleles in the Myotonic Dystrophy and Huntington's Disease Loci

2006 ◽  
Vol 10 (2) ◽  
pp. 85-97 ◽  
Author(s):  
M Falk ◽  
M. Vojtíšková ◽  
Z. Lukáš ◽  
I. Kroupová ◽  
U. Froster
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Myotonic Dystrophy ◽  
Simple Procedure ◽  
Automatic Detection ◽  
Unstable Alleles ◽  
Disease Loci

scholarly journals MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

Brain ◽  
2019 ◽  
Vol 142 (7) ◽  
pp. 1876-1886 ◽  
Author(s):  
Michael Flower ◽  
Vilija Lomeikaite ◽  
Marc Ciosi ◽  
Sarah Cumming ◽  
Fernando Morales ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Association Study ◽  
Huntington’S Disease ◽  
Myotonic Dystrophy ◽  
Disease Onset ◽  
Repeat Expansion ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Exon 1

Abstract The mismatch repair gene MSH3 has been implicated as a genetic modifier of the CAG·CTG repeat expansion disorders Huntington’s disease and myotonic dystrophy type 1. A recent Huntington’s disease genome-wide association study found rs557874766, an imputed single nucleotide polymorphism located within a polymorphic 9 bp tandem repeat in MSH3/DHFR, as the variant most significantly associated with progression in Huntington’s disease. Using Illumina sequencing in Huntington’s disease and myotonic dystrophy type 1 subjects, we show that rs557874766 is an alignment artefact, the minor allele for which corresponds to a three-repeat allele in MSH3 exon 1 that is associated with a reduced rate of somatic CAG·CTG expansion (P = 0.004) and delayed disease onset (P = 0.003) in both Huntington’s disease and myotonic dystrophy type 1, and slower progression (P = 3.86 × 10−7) in Huntington’s disease. RNA-Seq of whole blood in the Huntington’s disease subjects found that repeat variants are associated with MSH3 and DHFR expression. A transcriptome-wide association study in the Huntington’s disease cohort found increased MSH3 and DHFR expression are associated with disease progression. These results suggest that variation in the MSH3 exon 1 repeat region influences somatic expansion and disease phenotype in Huntington’s disease and myotonic dystrophy type 1, and suggests a common DNA repair mechanism operates in both repeat expansion diseases.

scholarly journals Myotonic Dystrophy and Huntington’s Disease Care: “We Like to Think We’re Making a Difference”

2016 ◽  
Vol 43 (5) ◽  
pp. 678-686 ◽  
Author(s):  
Kori A. LaDonna ◽  
Christopher J. Watling ◽  
Susan L. Ray ◽  
Christine Piechowicz ◽  
Shannon L. Venance
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Myotonic Dystrophy ◽  
Clinical Care ◽  
Patient Centered Care ◽  
Care Provision ◽  
Patient Centered ◽  
Making A Difference ◽  
Care Approach ◽  
Centered Care

AbstractBackground: Patient-centered care for individuals with myotonic dystrophy (DM1) and Huntington’s disease (HD)—chronic, progressive, and life-limiting neurological conditions—may be challenged by patients’ cognitive and behavioral impairments. However, no research has explored health care providers’ (HCPs’) perspectives about patient-centered care provision for these patients along their disease trajectory. Methods: Constructivist grounded theory informed the iterative data collection and analysis process. Eleven DM1 or HD HCPs participated in semistructured interviews, and three stages of coding were used to analyze their interview transcripts. Codes were collapsed into themes and categories.Results: Three categories including an evolving care approach, fluid roles, and making a difference were identified. Participants described that their clinical care approach evolved depending on the patient’s disease stage and caregivers’ degree of involvement. HCPs described that their main goal was to provide hope to patients and caregivers through medical management, crisis prevention, support, and advocacy. Despite the lack of curative treatments, HCPs perceived that patients benefited from ongoing clinical care provided by proactive clinicians. Conclusions: Providing care for individuals with DM1 and HD is a balancing act. HCPs must strike a balance between (1) the frustrations and rewards of patient-centered care provision, (2) addressing symptoms and preventing and managing crises while focusing on patients’ and caregivers’ quality of life concerns, and (3) advocating for patients while addressing caregivers’ needs. This raises important questions: Is patient-centered care possible for patients with cognitive decline? Does chronic neurological care need to evolve to better address patients’ and caregivers’ complex needs?

Evolving Motivations: Patients’ and Caregivers’ Perceptions About Seeking Myotonic Dystrophy (DM1) and Huntington’s Disease Care

2017 ◽  
Vol 27 (11) ◽  
pp. 1727-1737 ◽  
Author(s):  
Kori A. LaDonna ◽  
Christopher J. Watling ◽  
Susan L. Ray ◽  
Christine Piechowicz ◽  
Shannon L. Venance
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Myotonic Dystrophy

scholarly journals Structure and Dynamics of RNA Repeat Expansions That Cause Huntington’s Disease and Myotonic Dystrophy Type 1

Biochemistry ◽  
2017 ◽  
Vol 56 (27) ◽  
pp. 3463-3474 ◽  
Author(s):  
Jonathan L. Chen ◽  
Damian M. VanEtten ◽  
Matthew A. Fountain ◽  
Ilyas Yildirim ◽  
Matthew D. Disney
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Structure And Dynamics ◽  
Repeat Expansions
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