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16 Cards in this Set
- Front
- Back
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Complex dance or interplay between genetic factors and ... factors
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environmental
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genetic susceptibility:
single gene or multiple gene polymorphisms involves complex interactions between genes and the environment --> ... inheritance |
multifactorial
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Diabetes Mellitus:
Type I Type II MODY (maturity-onset diabetes of the young) Neonatal diabetes Gestational diabetes all characterized by recurrent ... due to inability of cells to take up excess glucose |
hyperglycemia
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Diabetes Type 1 (T1DM):
“insulin-dependent”, “juvenile onset” destruction of ... in pancreatic islets - brought on by infection and genetically programmed abnormal ... response environment: diet, viral infection, drugs -Major loci: ... (human leukocyte antigen)/IDDM1 INS VNTR (variable number tandem repeats of insulin gene) -12-20 minor susceptibility loci CTLA4, PTPN2L, IL2RA, IFIH1 |
β-cells
immune HLA |
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Type II Diabetes (T2DM):
... onset, only some are insulin-dependent, may involve defects in insulin ... and/or insulin production no major predisposing loci many possible variants in minor loci additive effect of ... and multiple minor loci |
later
receptors environment |
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MODY:
autosomal ... form mutations in ... genes Results in mild ..., may be discovered in other routine exams A lot of times, patients are asymptomatic other loci may be involved HNF1A (hepatocyte nuclear factor), HNF4A, HNF1β, IPF1, NEUROD1, and CEL transcription factors needed for proper ... development |
dominant
glucokinase hypergycemia β-cell |
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Neonatal diabetes:
transient form results from over-expression of paternally expressed gene on chromosome 6q24 -remission by month 3, but ... tendency to develop diabetes later in life permanent form commonly caused by mutations in KCNJ11 or ABCC8, which are ATP-sensitive ... channel in β-cells (constitutively open, no insulin release) -... drugs successfully treat by closing channels |
increased
potassium sulfonylurea |
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what is this?
10-25% population (age-dependent) increased risk of stroke, coronary artery disease, renal disease environmental: high sodium, obesity, alcohol, lack of exercise, stress genetic: several loci on chromosomes 2, 5, 9, 15, 16, and 17 |
hypertension
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which disease is this?
most common cause of death in industrialized countries results from atherosclerosis Multifactorial -high cholesterol, lack of exercise, smoking -high LDL/low HDL -major loci: LDLR, MEF2A, chromosomes 2q34-37 and 3q26-27 |
coronary artery disease
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what is this?
recurrent and unprovoked seizures 10% of population will experience in their lifetimes involve defects in neuronal ion channels: -K+ (KCNQ2 and KCNQ3) -nicotinic ACh receptor/Ca2+ (CHRNA4 and CHRNA2) -Na+ (SCN1A and SCN1B) -Cl- (CLCN2) |
Epilepsy
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Alzheimer's Disease (AD):
most common cause of dementia -an ... and ... global impairment of intellect, memory, social skills and control of emotional reactions in the presence of normal consciousness characteristic neuro-histological findings: -... (β-amyloid from APP) -... (tau protein) -loss of ... neurons (particularly in the hippocampus and cerebral cortex) |
irreversible
progressive amyloid plaques neurofibrillary tangles cholinergic |
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#1 Risk Factor for AD is ...
Other risk factors: diet, education and intelligence, head injury, hormones, aluminum, alcohol, lack of exercise |
Age
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Single Gene Mutations in AD:
APP (amyloid precursor protein) -Expressed on Chromosome ... -Trisomy 21 (Down syndrome): at an increased risk of developing AD ... genes -integral membrane proteins expressed in ER and Golgi -involved in signaling pathways and APP metabolism |
21
presenilin |
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susceptibility genes in AD:
... (apolipoprotein E) -three common alleles (ε2, ε3, ε4) -increased risk associated with ... -decreased risk with ... -co-localize in plaques and tangles -role in lipid transport and metabolism polymorphisms in ... (LDL-related protein) and alpha2-macroglobulin genes |
APOE
apoE4 apoE2 LRP |
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what is this?
121 million worldwide 4th leading cause of disease burden, estimated to become #1 cause of disease burden by 2020 affects mood, self esteem, sleep, appetite, concentration (lethargy, lost of interest) physical effects: GI upset, headaches, higher incidence of heart disease and death |
depression
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Genetic Link to Depression:
... form/allele of 5-HTT (serotonin transporter) -not as effective in controlling ... levels in the brain -... copy increases risk of depression -... sensitivity to emotional stress (stress-induced depression) -3X more likely to commit ... -may also be linked to alcoholism, anxiety, OCD, and SIDS |
short
serotonin single heightened suicide |
