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Lecture 19

GN 301 Lecture Notes - Lecture 19: Neurofibromatosis, Desmosome, Enzyme


Department
Genetics
Course Code
GN 301
Professor
Marian- Elizabeth B.Gardner
Lecture
19

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4.3 Additional Disorders
Tuesday, November 28, 2017
10:17 AM
Autism
o Repetitive behaviors, social deficit, language impairment
o High heritability
o 80% of autism is due to unknown of multifactorial influences
Epigenetics
Identify stressors
Genes turn on or off due to environment
o Genetic abnormalities not always present
Chr 7: speech
Chr 15: duplication
Chr 17: serotonin
Chr 3: oxytocin
o 3:1 male to female ratio
More males also diagnosed earlier
o High resolution karyotyping is used in impacted individuals
Can help build database for future treatment
Does not actually provide treatment
Aid in earlier diagnosis
Bridge the gender gap bc more males diagnosed
Boys show more obvious signs
o Symptoms
Pica, seizures, speech issues, epilepsy, ADHD
o Social Issues
Education, jobs, marriage, extracurriculars, relationships
Heart Disease
o Left atrium, left ventricle, right ventricle, right atrium
o Electrical system control heartbeat and cardiac impulses
Cardiac cycle relates to the heart impulses
o Use of Action Potentials
Use of K, Na, and Ca through cell membrane which affects voltage
o Cardiomyopathy
Types
Restrictive: walls of heart to become rigid and heart to stretch
Hypertrophic: thickening of heart muscle
Dilated: chamber enlarges
Causes
Mutations causes lack of production of sarcomeres
Muscles cells made up of myofibril which is made up of sarcomeres
Autosomal Dominant
o QT Syndrome
Abnormal electrical activity in the heart, not abnormal heartbeat
Mutations in K, Ca, Na channels
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