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Molecular Genetics  

Molecular Genetics Laboratory

 

The research activity of the Molecular Genetics Laboratory is dedicated to the study of the molecular basis of genetic diseases, with specific attention to cognitive disorders and neurodegenerative diseases.

 

The main lines of research are:

1. Post-transcriptional regulation mechanisms of CDK5R1 expression mediated by RNA-binding proteins and microRNAs, and their possible involvement in the pathogenesis of Alzheimer's disease.

The CDK5R1 gene encodes p35, the main activatory subunit of CDK5, a protein kinase with a key role in CNS development which has also been shown to be involved in Alzheimer’s disease neurodegeneration process by abnormal phosphorylation of APP and Tau. CDK5R1 levels are controlled at post-transcriptional level by the binding of its 3’-UTR to RNA-binding proteins and microRNAs, some of them are deregulated in Alzheimer’s disease. We are trying to understand which factors can post-transcriptionally regulate CDK5R1 expression, influencing CDK5 activity, and if these mechanisms are altered in Alzheimer. This study can shed new light on the molecular mechanisms causing neurodegeneration in Alzheimer's disease and can lead to the identification of mechanisms that may represent a target for new therapies.

 

2. Study of the genetic basis of Non-Syndromic Intellectual Disability by classical (DHPLC analysis and direct sequencing) and next-generation (exome sequencing) approaches.

Intellectual Disability is a disorder affecting approximately 2% of the general population which is characterized by cognitive impairment and significant limitations in adaptive skills. Non-Syndromic Intellectual Disability represents 30-50% of all Intellectual Disability cases and about a quarter of them is thought to be caused by genetic defects. Despite the advent of the next-generation sequencing techniques has considerably increased the number of known causative genes, there is still a gap in the full comprehension of the genetic basis of Non-Syndromic Intellectual Disability, due to the extremely high genetic heterogeneity of this cognitive disorder. Our group activity includes both the mutational screening of candidate genes by means of DHPLC analysis and the search for new causative genes through the application of next-generation sequencing techniques.

 

Contacts

Dott. Marco Venturin

 

Location

Via G.B. Viotti 3/5, 20133, Milano, Italia

 

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