MTM Exam 4 Diseases Flashcards
Cause & Symptoms of Guillain-Barre Syndrome?
Cause = Autoimmune disorder Antibodies against Peripheral Nervous System myelination (Schwann cells)
Symptoms = Peripheral weakness and dulled peripheral senses
Cause and Symptoms of Multiple Sclerosis?
Cause = thought to be an autoimmune disorder against myelination of CNS neurons (Oligodendrocytes)
Symptoms = Reduced ability to walk with varying presentation of affected individuals
Cause/Symptoms of Myasthenia Gravis?
Cause = Autoimmune disorder against neuromuscular-junctions
Symptoms = weakness of skeletal muscle (droopy eyes possibly etc.)
What cells would play a role in Encephalitis?
Microglial cells - CNS phagocytes
What cells play a role in Blood Brain Barrier?
Astrocytes - Blood to Neuron metabolic intermediary
What disease is defined as sclerosis of motor neurons?
Amyotrophic Lateral Sclerosis or ALS this is the disease Stephen Hawking had.
What cells could be implicated in a case of Hydrocephalus?
Ependymal Cells a cubioidal single layer that lines the spinal cord and ventricles and makes Cerebrospinal Fluid
Give 2 examples of Loss-of-Function w/ Haplosufficency Diseases
Hint - X-linked & Enzymopathies
- Duchenne/Becker Muscular Dystrophy Duchenne complete loss of Dystrophin protein & Becker you still have some functionality but it is mutated so less severe.
- Inborn Error of Metabolism (Amino Acid Diseases) Phenylketonuria (PKU), Albinism, & Maple Syrup Urine Disease
Give 2 Examples of Loss-of-function w/ Haploinsufficiency Related to Transcription Factors
- Nail Patella Syndrome
- Cleidocranial Dysplasia
Give 2 Examples of Loss-of-function w/ Haploinsufficiency Related to Porphyria
Hint- Heme Metabolism & Rare AD Enzymopathies
- Acute Intermittent Porphyria , Wine Red Urine Presentation
- Variegate Porphyria
Both Autosomal Dominant, Haploinsufficiency, & Loss-of-Function
Classic Examples of Gain-of-Function Dominant Diseases
FGFR3 Gain-of-function
In loss of function opposite elongated limbs
Classic Examples of Dominant-Negative Mutations
Osteogenesis imperfecta
In Dominant-negative the defect in one alleles gene product messes with the normal allele.
Classic example of a Disease that displays Codominance
Codominance, is when the two alleles both present phenotypically and have a resulting phenotype, example Red Allele + White Allele = Pink Phenotype
Remember F, M, S, Z alleles for Antitrypsin Deficiency (Fast -> Slowest on gel)
2 Examples of Loss-of-Function mutation of a Regulatory Region
- Polydactyly w/ Sonic Hedge Hog (SHH)
- Campomelic Dysplasia (Sox9) (Campomelic = Bent Limb)
Example of Gain-of-Function mutation in Regulatory Region
Lactose Tolerance or Lactose Persistence Is a autosomal dominant trait (DRINK MALK)
Classic example of Chromosomal Mutations & how deletions & duplications sometimes have opposite phenotypes.
For every deletion syndrome there is usually a duplication syndrome due to unequal crossing over. **Williams syndrome elf-like faces and musical. **
What disease is characteristic of loss of maternal contribution at 15q11-13
Angelman Syndrome
What disease is characteristic of loss of paternal contribution at 15q11-13
Prader-Willi Syndrome
