Mechanisms and causality in molecular diseases

Shannon E. Keenan, Stanislav Y. Shvartsman

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

How is a disease contracted, and how does it progress through the body? Answers to these questions are fundamental to understanding both basic biology and medicine. Advances in the biomedical sciences continue to provide more tools to address these fundamental questions and to uncover questions that have not been thought of before. Despite these major advances, we are still facing conceptual and technical challenges when learning about the etiology of disease, especially for genetic diseases. In this review, we illustrate this point by discussing the causal links between molecular mechanisms and systems-level phenotypes in molecular diseases. We begin with an examination of sickle cell anemia, and how mechanisms of the disease have been comprehended over the last century. While sickle cell anemia involves a mutation in a single protein in a single cell type, other diseases involve mutations in networks with many protein interactions and in diverse cell types. We introduce the challenges that result from these differences and illustrate the current obstacles by discussing the RASopathies, a recently discovered class of developmental syndromes that result from mutations in signaling networks. Methods to study mutant genotypes that lead to mutant phenotypes are discussed, particularly the use of model organisms and mutant proteins to study protein interactions that may be important for development of disease. These studies will point toward the future of diagnosing and treating genetic disease.

Original languageEnglish (US)
Article number35
JournalHistory and Philosophy of the Life Sciences
Volume39
Issue number4
DOIs
StatePublished - Dec 1 2017

All Science Journal Classification (ASJC) codes

  • History
  • Arts and Humanities (miscellaneous)
  • History and Philosophy of Science

Keywords

  • Cell signaling
  • Genetic diseases
  • Sevenmaker
  • The RASopathies

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