The Dose Makes the Poison

Most genes cause disease when the function of at least one copy of the gene is disrupted (e.g., loss-of-function mutations) or compromised (e.g., missense mutations). Gain of function, resulting from increased dose of a gene product, is a less common mechanism of disease causation. Neurologists would be familiar with Charcot-Marie-Tooth disease type 1A caused by duplications of the PMP22 gene. Gene duplications are also well known in neurodegenerative diseases, such as duplications of the amyloid precursor protein gene (APP), resulting in early-onset Alzheimer dementia (AD) and cerebral amyloid angiopathy (CAA), and copy number increases of the synuclein-alpha gene, SNCA, causing dementia with Lewy bodies or Parkinson disease dementia.

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