Diseases Flashcards
PKU is
Both parents are obligate carriers. Both are heterozygotes. Autosomal recesive
recurrence risk
probability that offspring of a couple will have the genetic disease
- each reproductive event is statistically independent of all previous events
The most common genetic (inherited) cause of cognitive/mental impairment is
autisms (Fragil-X)
Neurofibromastosis type 1
Autosomal DOMINANT.
Gene defect: Mutation in a cell cycle regulatory protein. Variable expresion. Lisch nodules. (Eye pic)
Marfan syndrome
Autosomal Dominant. GOOD example of of a genetic principle called PLEIOTROPY
- MYOPIA AND DETACHED LENS
PLEIOTROPY
when a single mutation affects multiple organs systems a common fetaure of many genetic diseases
Thalassemias
- Autosomal recessive
Genetic defect: Imbalance in globin chain synthesis
X- Linked
is recessive
Hemophilia
X-Linked example and most common cause of death is AIDS
Example of Anticipations
Fragile X-linked syndrome, myotonic dystrophy, huntington disease
Sickle cell and CF are
autosomal recesive
Vitamin C
- Required as a cofactor (reducing equivalent) for the enzymes involve in hydroxylation of proline and lysine in collagen
- Lack of proline and lyisne hydroxylation lead to impairmanet of the interchain H_bond formation of a stable 3 helix and affect proper crosslinking
- These greatly decreases the tensile strenght of the assembled fiber: easy bruising, loose teeth and bleeding gums, poor wound healing, poor bone development
Chondrodystrophy
Defect in the sulfation of the growing glycosaminoglycan chain.
Affect the proper development and maintenance of the skeletal system. Dwarfism
Mucopolysaccharidoses
Progressive disorder characterized by glycosaminoglycans accumulation in the lysosomes of various tissues result oligo in the urine
Hurler Syndrme (MPS 1 H)
- most severe form of MPS
- corneal clouding
- Treatment are bone marrow or cord blood transplant and enzyme replacement theraphy available
Hunter Syndorme (MPS ll)
- x-linked
- no corneal clouding
- enzyme replacement theray treatment
Sly Syndrome (MPS Vll)
- extremely rare form of MPS
- Corneal clouding
- no apporved tratement
I-cell disease
Cause: deficiency in the ability to phosphorilate mannose. Accomulation of large lysosomal inclusion bodies is the consequense (LYSOSOMAL STORAGE DISEASE)
INSULIN RESISTANCE
the decreased ability of target tissues, such as liver, adipose, and muscle to respond properly to normal (or elevated) concentrations of insulin
Insulin resistance alone will not
lead to T2D. It will need dysfunctional pancreatic B-cells (which means that b- cells function can not longer secrete sufficient insulin to compensate for the elevated blood glucose levels)
Kwashiorkor
Protein deprivation is relative greater than the reduction in total calories
Marasmus
Calorie deprivation is relatively greater than the reduction in protein
Fat soluble vitamins
A, D, K, E
Vitamin K
- only vitamin that funtion as coenzyme
