Packages
Work Package 7
Clinical and biochemical analysis of alpha-Mannosidosis mutations
- Involves Partners CUH and UiT
Objectives:
Update and maintenance of the database with clinical data and information on alpha-Mannosidosis patients included in the clinical trials.
Description of the Work:
Within FP6, a searchable alpha-Mannosidosis Mutation Database has been created, that contains genotypes and the respective clinical information from alpha-Mannosidosis patients from about 25 countries. Experimental data on residual enzyme activity, intracellular localization and processing exist for all 45 known missense mutations. Data concerning mutant protein structure are also available in this datababase. Within FP7, this WP aims to maintain, extend and improve this database by implementing clinical data from the natural history study obtainedwithin FP6 (HUE-MAN), from patients involved in clinical trials within ALPHA-MAN and from novel patients recruited through ordinary diagnostic services. Clinical data from new patients will be collected through questionnaire and structured to meet the database requirements. This WP also includes genotyping of patients involved in the clinical trials and of new patients recruited through diagnostic services. Novel missense mutations will be subjected to thorough analysis in cell culture systems and corresponding mutant alpha-mannosidases will be modeled (3D) at atomic resolution.