Diseases Flashcards
Leber’s Hereditary Optic Neuropathy (LHON)
Mitochondrial Inheritance
Degeneration of Retinal Ganglion cells
Caused by mtDNA impacting NADH dehydrogenase (loss of vision)
Loss of vision
Myoclonic Epilepsy and Raged Red Fibers (MERRF)
Mitochondrial Related disease
Mutation in tRNA for lysine
Disrupts synthesis of cyt-c (Complex 4)
Myoclonus & ataxia
Mitochondrial Encephalomyopathy, Lactic Episodes, and stroke-like episodes (MELAS)
Mitochondrial related disease (complex 1 and 4)
For leucine mutation
Most common
Affects many body systems
Stroke + dementia
Diabetes, deafness, cognitive impairment
Postaxial Polydactyly
Autosomal Dominant Inheritance
Webbed Fingers/Extra fingers
Tyrosinase-Negative Albinism
Autosomal Recessive Inheritance
Loss of pigment
Duchenne Muscular Dystrophy
X-linked Recessive
Absence of defective dystrophin
Death by mid-20s
Hypophosphatemia
X-linked Dominant
Polyploidy
Cells contain complete set of extra chromosome
Common in plants
Aneuploidy
Cells contain missing or extra chromosome
Prader-Willi Syndrome
Caused by Genetic imprinting of Chromosome 15
Maternal Disomy or Paternal Deletion
Obesity, short stature, mild intellectual disability
Angelman Syndrome
Caused by Genetic Imprinting of Chromosome 15
Maternal Deletion or Paternal Disomy
Severe Intellectual disability, seizures, ataxic gait
Turner Syndrome
45, XO karyotype
Short stature, underdeveloped female reproductive parts, 30% webbed neck, no cognitive defects
Klinefelter Syndrome
47, XXY
Male but with extra feminized traits:
Breast development, hypogonadism, infertility, tall stature
The more X chromosomes, the worse the conditions
Downs Syndrome
Trisomy 21 (47, XX + 21)
Most common (1/700)
Edward’s Syndrome
Trisomy 18 (47, XX + 18)
1/6000
95% in Utero death, Microencephaly, malformed, low-set ears, cleft-lip, overlapped fingers
Patau’s Syndrome
Trisomy 13 (47, XX + 13)
Severe developmental abnormalities
1/12 500
CNS dysfunction, really bad
Retinoblastoma
Autosomal Dominant
Penetrance is 90%
Cancer starts in eyes, moves to brain
Neurofibramatosis
Tumor like growths on skin
“cafe-au-lait” spots
Example of Variable Expressivity
Marfan Syndrome
Connective tissue disorder
Characterized by long limbs, ectopia lens, weak aorta
Example of Variable Expressivity
Osteogenesis Imperfecta
Brittle Bone Disease
Mutation in collagen loci: Chromosome 7, 17
Cystic fibrosis
Autosomal Recessive
Pyloric Stenosis
Muscular hypertrophy between stomach and duodenum
Vommiting, obstruction etc
Example of Multifactorial Inheritance;
Males more impacted, need less risk genes to show
