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Lecture 16

GN 301 Lecture Notes - Lecture 16: Narcolepsy, Apolipoprotein E, Mutation


Department
Genetics
Course Code
GN 301
Professor
Marian- Elizabeth B.Gardner
Lecture
16

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3.6 Intelligence
Thursday, November 2, 2017
10:17 AM
Intelligence Disability
o Disability that occurs during developmental lifetime of a person
o 3% affected (450k in NC and 15 mil around world)
o Causes
37% genetic
Polygenetic Inheritance
Could inherit combo of all the bad alleles
Familiar Intellectual Disabilities
75% of cases come from 10% of families
If both parents have 50-70 IQ, 60-70% child will have disabilities
PKU
Autosomal recessive
Cannot process phenylalanine
Galactosemia
Autosomal recessive
Too much galactose
Hurler Syndrome
Autosomal recessive
Missing lysosomal enzyme allows chemical build up which affects brain
Death by 10
Tay-Sachs
Autosomal recessive
Missing lysosomal enzyme
Fat builds up and causes blindness, paralysis, convulsions
Rett Syndrome
X-linked dominant
Chromosomal: Trisomy 21, 18, 13
% of Triso  die i uterus ad % do’t lie loger tha ear
Fragile X Syndrome
William Syndrome
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Deletion from chromosome 7
20% environmental
Prenatal
Infections: measles, HIV, herpes
Medicines, Drugs, Alcohol
Maternal Health: BP, Diabetes, Nutrition
Can decrease IQ potential by 7 units
Perinatal
At delivery
Oxygen deprivation (more than 90 seconds)
Premature delivery (less than 5.5 lbs)
Low birth weight correlated with lower IQ
If twins born that are premature, low IQ is likely
Postnatal
Protein deficiency causes CNS damage
43% unknown
Human Brain
o 3 lbs gray matter
o 100 billion nerve cells and trillion neuroglia cells
o Neuroglia cells
Divide to guide dev and movement of neurons in embryo
Produce nerve growth factors
Can become brain tumors
o Communication through synapses using neurotransmitters
Many genes that affect behavior affect neurotransmission
Genes make neurotransmitter-making enzymes
Transporter proteins allow neurotransmitters to get into cells
Mutation in seratonin transporter is form of autism
Myelin Sheath
Insulates and speeds up transmission
3 genes in schizophrenia are related to myelin sheath
Roles of Genes
make myelin
Make neurotransmitters
Transporter protein in sending cell
Receptors protein in receiving cell
Disorders
o Parkinson
Good mind but loss of control of body muscles
Cannot metabolize dopamine
L-Dopa helps relieve symptoms
Can be autosomal recessive or x-linked recessive or env
o Epilepsy
12 known genes of it so far
MZ:DZ so both gen and env factors important
Viruses and fevers at infancy may cause it
Triggered by environmental factors
Seizures
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