Genetic variation in neurodegenerative diseases and its accessibility in the modelorganism Caenorhabditis elegans

Yiru A. Wang, J.E. Kammenga, S.C. Harvey

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Abstract

Background: Neurodegenerative diseases (NGDs) such as Alzheimer’s and Parkinson’s are debilitating and largely untreatable conditions strongly linked to age. The clinical, neuropathological, and genetic components of NGDs indicate that neurodegeneration is a complex trait determined by multiple genes and by the environment. Main body: The symptoms of NGDs differ among individuals due to their genetic background, and this variation affects the onset and progression of NGD and NGD-like states. Such genetic variation affects the molecular and cellular processes underlying NGDs, leading to differential clinical phenotypes. So far, we have a limited understanding of the mechanisms of individual background variation. Here, we consider how variation between genetic backgrounds affects the mechanisms of aging and proteostasis in NGD phenotypes. We discuss how the nematode Caenorhabditis elegans can be used to identify the role of variation between genetic backgrounds. Additionally, we review advance s in C. elegans methods that can facilitate the identification of NGD regulators and/or networks. Conclusion: Genetic variation both in disease genes and in regulatory factors that modulate onset and progression of NGDs are incompletely understood. The nematode C. elegans represents a valuable system in which to address such questions.
Original languageEnglish
Article number12
JournalHuman Genomics
Volume11
DOIs
Publication statusPublished - 2017

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Caenorhabditis elegans
Neurodegenerative Diseases
Phenotype
Regulator Genes

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title = "Genetic variation in neurodegenerative diseases and its accessibility in the modelorganism Caenorhabditis elegans",
abstract = "Background: Neurodegenerative diseases (NGDs) such as Alzheimer’s and Parkinson’s are debilitating and largely untreatable conditions strongly linked to age. The clinical, neuropathological, and genetic components of NGDs indicate that neurodegeneration is a complex trait determined by multiple genes and by the environment. Main body: The symptoms of NGDs differ among individuals due to their genetic background, and this variation affects the onset and progression of NGD and NGD-like states. Such genetic variation affects the molecular and cellular processes underlying NGDs, leading to differential clinical phenotypes. So far, we have a limited understanding of the mechanisms of individual background variation. Here, we consider how variation between genetic backgrounds affects the mechanisms of aging and proteostasis in NGD phenotypes. We discuss how the nematode Caenorhabditis elegans can be used to identify the role of variation between genetic backgrounds. Additionally, we review advance s in C. elegans methods that can facilitate the identification of NGD regulators and/or networks. Conclusion: Genetic variation both in disease genes and in regulatory factors that modulate onset and progression of NGDs are incompletely understood. The nematode C. elegans represents a valuable system in which to address such questions.",
author = "Wang, {Yiru A.} and J.E. Kammenga and S.C. Harvey",
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language = "English",
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Genetic variation in neurodegenerative diseases and its accessibility in the modelorganism Caenorhabditis elegans. / Wang, Yiru A.; Kammenga, J.E.; Harvey, S.C.

In: Human Genomics, Vol. 11, 12, 2017.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Genetic variation in neurodegenerative diseases and its accessibility in the modelorganism Caenorhabditis elegans

AU - Wang, Yiru A.

AU - Kammenga, J.E.

AU - Harvey, S.C.

PY - 2017

Y1 - 2017

N2 - Background: Neurodegenerative diseases (NGDs) such as Alzheimer’s and Parkinson’s are debilitating and largely untreatable conditions strongly linked to age. The clinical, neuropathological, and genetic components of NGDs indicate that neurodegeneration is a complex trait determined by multiple genes and by the environment. Main body: The symptoms of NGDs differ among individuals due to their genetic background, and this variation affects the onset and progression of NGD and NGD-like states. Such genetic variation affects the molecular and cellular processes underlying NGDs, leading to differential clinical phenotypes. So far, we have a limited understanding of the mechanisms of individual background variation. Here, we consider how variation between genetic backgrounds affects the mechanisms of aging and proteostasis in NGD phenotypes. We discuss how the nematode Caenorhabditis elegans can be used to identify the role of variation between genetic backgrounds. Additionally, we review advance s in C. elegans methods that can facilitate the identification of NGD regulators and/or networks. Conclusion: Genetic variation both in disease genes and in regulatory factors that modulate onset and progression of NGDs are incompletely understood. The nematode C. elegans represents a valuable system in which to address such questions.

AB - Background: Neurodegenerative diseases (NGDs) such as Alzheimer’s and Parkinson’s are debilitating and largely untreatable conditions strongly linked to age. The clinical, neuropathological, and genetic components of NGDs indicate that neurodegeneration is a complex trait determined by multiple genes and by the environment. Main body: The symptoms of NGDs differ among individuals due to their genetic background, and this variation affects the onset and progression of NGD and NGD-like states. Such genetic variation affects the molecular and cellular processes underlying NGDs, leading to differential clinical phenotypes. So far, we have a limited understanding of the mechanisms of individual background variation. Here, we consider how variation between genetic backgrounds affects the mechanisms of aging and proteostasis in NGD phenotypes. We discuss how the nematode Caenorhabditis elegans can be used to identify the role of variation between genetic backgrounds. Additionally, we review advance s in C. elegans methods that can facilitate the identification of NGD regulators and/or networks. Conclusion: Genetic variation both in disease genes and in regulatory factors that modulate onset and progression of NGDs are incompletely understood. The nematode C. elegans represents a valuable system in which to address such questions.

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DO - 10.1186/s40246-017-0108-4

M3 - Article

VL - 11

JO - Human Genomics

JF - Human Genomics

SN - 1473-9542

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