Replications are important in medical science, and this study essentially replicates the paper from deCode on this Alzheimer-protective mutation published five years ago. This replication is particularly important because its result points at a therapeutic strategy for Alzheimer’s disease.
The fact that, previously, the Aβ-lowering effect of this APP mutation had only been seen in an Icelandic population was worrying. This new data in a Finnish population is therefore a welcome result.
This study is an important contribution to the validation of the amyloid hypothesis in vivo. Since the identification of this Icelandic mutation, it has been debated whether the apparently protective effect of the mutation is primarily due to its lowered Aβ production or due to its reduced aggregation propensity or due to both. Evidence for both mechanisms had been described in vitro. With this new study, there is finally evidence in vivo in plasma, at least for the reduced Aβ production.
It would be very informative to additionally know in the future whether the same reduction is seen in the CSF of these mutation carriers.
Comments
Institute of Neurology, UCL
Replications are important in medical science, and this study essentially replicates the paper from deCode on this Alzheimer-protective mutation published five years ago. This replication is particularly important because its result points at a therapeutic strategy for Alzheimer’s disease.
The fact that, previously, the Aβ-lowering effect of this APP mutation had only been seen in an Icelandic population was worrying. This new data in a Finnish population is therefore a welcome result.
View all comments by John HardyGerman Center for Neurodegenerative Diseases (DZNE)
This study is an important contribution to the validation of the amyloid hypothesis in vivo. Since the identification of this Icelandic mutation, it has been debated whether the apparently protective effect of the mutation is primarily due to its lowered Aβ production or due to its reduced aggregation propensity or due to both. Evidence for both mechanisms had been described in vitro. With this new study, there is finally evidence in vivo in plasma, at least for the reduced Aβ production.
It would be very informative to additionally know in the future whether the same reduction is seen in the CSF of these mutation carriers.
View all comments by Stefan LichtenthalerMake a Comment
To make a comment you must login or register.