Diseases and Genetic Disorders Flashcards
(41 cards)
Examples of Channelopathies
Hyperkalemic Period Paralysis
Long QT Syndrome
Cystic Fibrosis
Describe Hyperkalemic Period Paralysis
associated with the Na/K channel, highly variable, recessive and dominant, genetics are relatively complex (first seen in quarter horses who would freeze at the start of gates, then humans)
Major symptoms: Dizziness, light-headedness, partial paralysis, and death
Describe Long QT Syndrome
QT is extra long, heart takes longer to return to normal after heartbeat, many forms of SIDS are associated with this disorder,
major symptoms: heart problems. Na/K issues, affects hearing in many cases
Describe Cystic Fibrosis
Issue with the Cl channel, recessive disorder, associated with chromosome 7 (1500 nucleotides present) where there is a frameshift mutation @ the 508 position (deletion of a nucleotide–> faulty transmembrane is made), affect digestive system, pancreas, sweat glands and respiratory system is affected by thick fluid, pleotropic (affects many systems), evolved to be resistant to gut-based bacteria
Examples of mitochondrial-based diseases
MELAS
LHON
MERRF
Describe MELAS
Mitochondrial Encephalomyopathy Lactic Acidosis produces stroke like symptoms
Describe LHON
Leber Hereditary Optic Neuropathy causes loss of central vision and eventually leads to blindness
Describe MERRF
Myoclonus epilepsy with ragged-red fibers causes abnormal muscle cells, muscle weakness and progressive stiffness
Example of Lysosomal Diseases
Tay Sachs Disease
Describe Tay Sachs Disease
noticed children with a red dot on their retina, recessive genetic disorder, defense against tuberculosis, prevalent in people of jewish and cajun descent. Children may start out find but go downhill after 2-5 years , 13, 30-40,
Major symptoms: causes severe psychosis, affects neuromuscular system, hexegene on chromosome 15 goes awry, gangliocytes strangle the nerve cells
Describe Adrenoleukodystrophy
Peroxisomal disorder, babies barked, went blind, heart problems, loss of muscle control, darkening of skin, genetic condition that affects the membrane (myelin sheath) that covers nerve and spinal cord
Describe Zellweger Syndrom
recessive peroxisomal disorder that causes misshapen hands & feet, live structure issue, and chromosome 19 is involved
Spherocytosis
recessive hereditary disorder, RBC are normally spherically shaped instead of donut shaped. Causes anemia and jaundiceS
Syndactyly
webbed fingers/toes, prevented by apoptosis
Neurofibromatosis
Type 1: occur 3000
located on chromosome 17-ND1 Gene
Wide symptoms: birthmarks on some regions of their body that look like spilled coffee, lisch nodule on the iris of their eyes, tumors
Leukocyte trafficking disorder
adhesion disorder between selectins and integrins, if the selectins don’t work WBC can’t slow down, individuals are more prone to infections that may be able to come back
Describe Kallman syndrome
has to do with immunoglobulins, these people are born with 1 kidney, late puberty, males have small testes and inability to smell, late onset or lack of sex chromosomes
Giantism
hormone acromegaly, pituitary gland, too much growth hormone
Acromegaly
too much growth hormone, fast growth, harsh facial features
Difference between giantism and acromegaly
Acromegaly occurs when they are younger
Pituitary dwarfism
Normal shaped head, but small body, normal intelligence, not enough growth hormones produced
Example of Disorders resulting from growth Hormones
Giantism, acromegaly, pituitary dwarfism
Examples of disorder resulting from spontaneous mutation
Achondroplasia
Describe Achondroplasia
Once this mutation occurs the vast majority will be dominant, responsible for the FGF-3 gen, related to chromosome 4P (small arm-petite), male is a bit taller and average height is 4’4”, female is 4’ 1”, torso is normal sized but their limbs are shorter, nasal bone i slower and looks like they have a bigger or more prominent forehead, redundant skin fold, hydrocephaly
