Molecular Biology of Amyotrophic lateral Sclerosis

Abstract

This review paper on the Molecular Biology of Amyotrophic Lateral Sclerosis consists of three main parts. In the first part, history, clinical features and genetics of ALS have been discussed. ALS can be considered under two main groups: familial and sporadic ALS. Familial ALS, in turn, is classified into two main groups according to its inheritance pattern, dominant FALS and recessive FALS. In addition to the genes which give rise to FALS, also in SALS patients, several genes have been identified. A landmark discovery in ALS research is the identification of mutations in the Superoxide Dismutase 1 (SOD 1) gene as the primary cause of 20% of instances of familial ALS. Since FALS and SALS are clinically indistinguishable and pathologically very similar, research on the molecular pathogenesis of ALS has concentrated on the SOD 1 protein and its pathology.In the second part of this review, research on SOD 1 gene and protein has been compiled, with a special emphasis on the possible mechanisms playing a role in the molecular pathogenesis. In the third part of this review, state-of-the-art research on ALS has been discussed. In summary, although therapy development is currently lagging behind the elucidation of the genetic and pathogenic mechanisms involved in ALS, there is enough reason to be optimistic. RNA lnterference and stem cell research are promising new approaches in the creation of effective therapies for ALS.