Neurogenetics Science of the Effect of the Genetic

Neurological Disorders Neurodegenerative Diseases Schizophrenia – NOTCH 4 Alzheimer's Disease – APOE, Zinc Finger

Methods of Research • Statistical Analysis • • • Logarithm of Odds (LOD) -

Behavioral Neurogenetics • • Observation of Effect & Interaction of genes on Behaviour &

Current Research • • • Rapidly expanding & growing field since Human Genome Project

Slides: 5

Neurogenetics • Science of the Effect of the Genetic Code and its Inheritance on the development & function of the Nervous System and Behaviour • Includes Studies of Neurological Diseases & Personality by Timo Pohl

Neurological Disorders Neurodegenerative Diseases Schizophrenia – NOTCH 4 Alzheimer's Disease – APOE, Zinc Finger Protein 804 A PICALM ADHD – Genes involved in Dopamine Neurotransmission Multiple Sclerosis – DR 15, DQ 6 Tourette's Syndrome, Autism, Epilepsy, Mental Retardation etc. . . Parkinson's Disease – LRRK 2, PARK 2, PARK 7 Huntington's Disease - HTT ALS – SOD 1, ALS 2

Methods of Research • Statistical Analysis • • • Logarithm of Odds (LOD) - used in combination with pedigrees Quantitative Trait Loci (QTL) - screening for specific gene markers Recombinant DNA • • Any mutated form of a gene – induced or randomly occuring Forward/backward genetics • • Animal Research • The role of genes and its interactions in creatures with simple NS & smaller genomes but evolutionary conserved homologous genes • • Pheno-genotype/geno-phenotype Mice, Drosophila, C. elegans, Zebrafish Reverse genetics: Recombinant Gene > Observation Cannot completely model the complexity of the human body Human Research • • Volunteers with certain coditions & illnesses Sampling of CSF, Blood, Muscle Tissue > Gene Sequencing

Behavioral Neurogenetics • • Observation of Effect & Interaction of genes on Behaviour & Traits Usually complex polygenic interaction of variants of genes Cross-Species Conservation - Evolutionary Conserved Genes Higher Cognitive Function - • • Dopamine Gene Expr. > Motivation&Learning > Synaptic Plasticity > Faster Response Time Aggression • • Different Levels of Aggression throughout Animal Kingdom Dependent on Serotonin and its Metabolism • • Serotonin(5 HT), 5 HT Receptor, MAO, SERT MAO-A Deficient Dutch Family – displayed over-average aggressive behavior • Alcohol Dependency • ALDH 1 B, 2 Polymorphism > decreased Alcohol Met. > Predisposition to Alcoholism

Current Research • • • Rapidly expanding & growing field since Human Genome Project (HGP) succeeded in decoding the entire Human Genome in 2003 helps identifying, understanding Neurological Disorders Important for classification & possible treatment