les_5_29102009 - monogenic conditions: 13, 20 and 27/10...

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monogenic conditions: 13, 20 and 27/10 hereditary cancer syndromes inborn errors of metabolism neurodegenerative diseases connective tissue diseases susceptibility to infectious diseases gene therapy: current possibilities and future perspectives
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inborn errors of metabolism genetic defect in an enzyme involved in a metabolic proces autosomal or X-linked all: recessive examples : defect in amino acid metabolism (PKU, homocystinuria) defect in purin metabolism (Lesh-Nyhan) lysosomal storage diseases (MPS, I-cell disease)
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inborn errors of metabolism
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inborn errors of metabolism
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phenylketonuria defect in phenylalanine hydroxylase (PAH) frequency : 1/10.000 to 1/20.000 untreated→ mental retardation neonatal screening ( Guthrie card ) diet: protein reduction; life long! (cave: maternal PKU!) allelic heterogeneity (> 400 mutations) locus heterogeneity → PAH deficiency → BH4 recycling defect
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phenylketonuria pterine biosynthese neurotransmitters: dopamine, serotonine BH4 = tetrahydrobiopterine = PAH co-factor food endogenous phenylalanine hydroxylase (PAH) protein phenylalanine tyrosine phenylpyruvate
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maternal PKU relaxation of diet in adulthood exposition to toxic metabolites in utero
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inborn errors of metabolism therapeutic options: diet enzyme replacement therapy gene therapy enzyme replacement therapy (ERT) Fabry’s disease: Fabrazyme, Replagal Gaucher’s disease: Cerezyme Hunter’s disease: Elaprase cost! Elaprase: 600.000 Euro/patient/year Fabrazyme: 200.000 Euro/patient/year
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neurodegenerative diseases chronic and progressive symmetrical and selective loss of neurons cognition, motor and sensory functions classification molecular markers: AD: senile plaques and neurofibrillary tangles HD: polyglutamine inclusions and neuron loss in the neostriatum
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neurodegenerative diseases causes: genetic factors environmental (toxic or metabolic, infections,. ..) genetics: monogenic forms: rare, Mendelian inheritance ‘common disorders’: multifactorial inheritance
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neurodegenerative diseases genetic diagnosis: classification disease course molecular basis: identification of causal proteins and pathways animal models therapy (monogenic and multifactorial)
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triplet diseases 10 hereditary NDA caused by a polyglutamine tract expansion different genes common molecular pathogenesis? anticipation
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This note was uploaded on 05/28/2010 for the course WE BIBI000000 taught by Professor Johangrooten during the Spring '10 term at Ghent University.

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les_5_29102009 - monogenic conditions: 13, 20 and 27/10...

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