Читать книгу Spectrums of Amyotrophic Lateral Sclerosis - Группа авторов - Страница 44

Genetic research of ALS focuses on what causes the disease, but also on the biological implications of carrying associated variants. Many of the variants associated with ALS lead to protein misfolding or aggregation. However, it is uncertain whether misfolding and subsequent aggregation is a cause of disease or a hallmark of normal cellular response to abnormal proteins. As more biological pathways such as RNA metabolism, mitochondrial function and survival, nuclear‐cytoplasmic trafficking, and synaptic transmission are being implicated in ALS, a more complete schema will emerge. One variant may be important to ALS, but as so many ALS cases are without penetrant inherited variants that it is likely a larger‐scale consideration of the genome will lead to better understanding of the disease process.