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Biomarker for Amyotrophic Lateral Sclerosis

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General Methods in Biomarker Research and their Applications

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Abstract

Amyotrophic lateral sclerosis (ALS) is a disabling and fatal neurodegenerative motor neuron disease whose unresolved etiology is likely to be multifactorial involving both environmental and genetic factors. Neither risk factors (increasing the likelihood of disease initiation or promotion) have been unambiguously elucidated nor reliable diagnostic markers (complying with sensitivity and specificity requirements) have been validated or even clinically proven. Beyond that, no efficient therapy or pharmacologic intervention exists so far. The only available drug, riluzole, extends the lifespan of ALS patients for not more than 2–3 months. There is a basic lack of information about the pathomechanisms involved in the course of disease initiation and progression, especially how proposed cytopathological events interact with each other in a disease typical manner. Beyond motor neuron degeneration, there is strong evidence that the relentless disorder has further systemic implications. ALS patients frequently experience single or multiple misdiagnosis. The average time from disease onset to correct diagnosis is 12 months. This is particularly significant when one considers that most of the ALS patients die within 2–5 years after disease onset. In fact, delayed diagnosis times hamper research on early diagnostic markers, whereas short survival times come along with narrow time windows to study disease-modifying factors or even to define therapeutic end points in the course of intervention studies. The current chapter gives a review about the progress in biomarker research based on genetic, proteomic, and metabolomic (candidate) markers reported so far.

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Abbreviations

ALS:

Amyotrophic lateral sclerosis

BMAA:

β-N-methylamino-l-alanine

CSF:

Cerebrospinal fluid

ER:

Endoplasmic reticulum

FUS/TLS:

Fused in sarcoma/translated in liposarcoma

GluRs:

Glutamate receptors

mRNA:

Messenger ribonucleic acid

PTMs:

Posttranslational modifications

ROS:

Reactive oxygen species

SOD1:

Cu,Zn-superoxide dismutase 1

SOPs:

Standard operation protocols

TDP-43:

Tar DNA-binding protein 43

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Authors and Affiliations

  1. Institute of Biochemistry I, University Hospital Jena, Nonnenplan 2, D-07743, Jena, Germany

    Thomas Krüger

  2. Department of Molecular and Applied Microbiology, Leibniz Institute for Natural Product Research and Infection Biology, Hans Knöll Institute Jena, Beutenbergstraße 11a, D-07745, Jena, Germany

    Thomas Krüger

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  1. Thomas Krüger
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Editors and Affiliations

  1. Department of Nutrition and Dietetics, Division of Diabetes & Nutritional Sciences, Faculty of Life Sciences & Medicine, King's College London, London, United Kingdom

    Victor R. Preedy

  2. Faculty of Science & Technology, Department of Biomedical Sciences, University of Westminster, London, United Kingdom

    Vinood B. Patel

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Krüger, T. (2015). Biomarker for Amyotrophic Lateral Sclerosis. In: Preedy, V., Patel, V. (eds) General Methods in Biomarker Research and their Applications. Biomarkers in Disease: Methods, Discoveries and Applications. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-7696-8_7

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