Flash 1 Flashcards
What mechanisms cause cellular aging
- Accumulation of DNA damage
- Replicative senescence
- Defective protein homeostasis
- Nutrient sensing system
Remarks on replicative senescence
Mechanism of cellular aging characterized by reduced capacity of cells to divide secondary to progressive shortening of chromosomal ends (telomeres)
Mediators of increased longevity brought about by caloric restriction
- Reduced IGF-1 signialing
2. Increased sirtuins
What is a potent fibrogenic agent?
TGF-beta
Components of the virchow’s triad
Endothelial injury
Abnormal blood flow (stasis or turbulence)
Hypercoagulability
Systemic emboli derive from
Cardiac mural or valvular thrombi
Aortic aneurysms
Atherosclerotic plaques
Red infarcts
Infarcts caused by venous occlusion or occurring in spongy tissues with dual blood supply and where blood can collect
Remarks on AD disorders
Receptors and structural proteins are involved
AR diseases
Enzyme proteins are affected usually
Female carriers of x-linked disorders usually are ______ because of _______ of one X chromoseom
Protected; random inactivation
Marfan
Mutation in FBN1, encoding for fibrillin
Fibrillin is requred for
Structural intefrity of connective tissues
Regulatiotn of TGF-B signaling
What are the major tissues affected in Marfan syndrome
Skeleton
Eyes
Cardiovascular system
Tay-Sachs disease cause
Severe intellectual disability
Blindness
Motor weakness
Death by 2-3 years of age
What is the most severe type of Niemann-Pick disease
Type A
Niemann pick dse type C
Defect in cholesterol transport Presents with -ataxia -dysarthria -psychomotor regression
Gaucher disease has a strong association with
Parkinson disease
Pompe disease
Lack of lysosomal acid alpha-glucosidse
What condition is characterized by pathologic amplification of trinucleotide repeats causing GAIN-OF-FUNCTION mutations?
Huntington disease
Fragil X syndrome results from
Loss of FMR1 gene function
CGG repeats
Fragile X syndrrome
What process involves transciptional silencing of the paternal or maternal copies of certain genes during gametogenesis?
Imprinting
*loss of the functional (not imprinted) alleel by deletion gives rise to diseases
What ar manifestations of prader Willi syndrome
Intellecual disability Short stature Hypotonia Hyperphagia Small hands and feet Hypogonadism
Manifestations of angelman syndrome
Intellectual disability
Ataxia
Seizures
Inappropriate laughter
