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Genetic basis of brain diseases

Jacek Kuźnicki 

International Institute of Molecular and Cell Biology, Ks. Trojdena 4 Warszawa, Warszawa 02-109, Poland
Nencki Institute of Experimental Biology, Pasteura 3, Warszawa 02-093, Poland

Abstract

Ageing is one of the most important risk factors for development of so-called age-related diseases. Brain disorders are especially devastating since they affect individual’s identity and ability to function independently; among such diseases neurodegeneration of Alzheimer’s (AD) or Parkinson’s (PD) type and psychiatric diseases are the most common. There has been a significant progress in understanding the causes of these diseases and it is well established that genetics plays an important role in their pathogenesis. In some familial cases the mutation in a single gene is responsible for the symptoms and early onset of the disease. For example, mutation in the parkin or alfa-synuclein gene induces familial PD, and  mutations in presenilins or Amyloid Precursor Protein (APP) - induce familial AD (FAD). However, the majority of cases of neurodegenerative diseases as well as of psychiatric disorders have less obvious genetic background. In fact many genes are involved in the pathogenesis of these diseases, and their effects depend on the environment. Recent Genome Wide Association Studies (GWAS) in which genomes of thousands of patients and healthy individuals were sequenced, identified single nucleotide polymorphisms (SNPs) in genes likely responsible for brain diseases. Notably, the same SNPs were identified in five major psychiatric diseases. Despite of these achievements, the progress in understanding how the healthy brain functions and what happens in the diseased organ are far from being understood. The challenge of the XXI century is now to use the knowledge generated by genomic research towards treatment by novel innovative medicines and to prevent, reverse, or delay brain pathologies.

 

 

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Related papers

Presentation: Invited oral at IX Multidyscyplinarna Konferencja Nauki o Leku, by Jacek Kuźnicki
See On-line Journal of IX Multidyscyplinarna Konferencja Nauki o Leku

Submitted: 2014-03-14 13:16
Revised:   2014-05-02 12:35