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Human Genomic > Exam 1 - Lecture 2 > Flashcards

Exam 1 - Lecture 2 Flashcards

1
Q

What are the symptoms of alzheimer’s disease?

A

Early: Memory problems
Middle: Troublesome behaviors
Late: Activities of daily living suffer

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2
Q

What are examples of multifactorial disease?

A
  1. Alzheimer disease
  2. Coronary Artery disease
  3. Diabetes Type I (childhood onset)
  4. Diabetes type II (adult onset)
  5. Hirschprung disease (here factors are all genes)
  6. Neural tube defects
  7. Schizophrenia
  8. Obesity
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3
Q

What are the risk of having alzheimer’s?

A
  1. If 1st degree relative has Alzheimer’s - 30% lifetime risk (3-4 times increase)
  2. Twin concordance rates: 30-80% for monozygotic; 10-40% for dizygotic
    Heritability (H) estimates (0.44 to 0.8)
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4
Q

What is the rate of inheriting Alzheimer’s as a monogenic disease?

A

1% unless autosomal domain
APP mutations (5%) (Most common = Val 717 Ile)
Presenilin-1 mutations (70%)
Presenilin-2 mutations (<5%)

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5
Q

What is the rate of inheriting Alzheimer’s as a multifactorial disease?

A

99%

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6
Q

What is Amyloid Precursor Protein (APP)?

A

Amyloid precursor protein (APP) is a membrane protein that sits in the membrane and extends outward.

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7
Q

What do secretases do?

A

enzyme that cuts B-amyloid peptides into fragments

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8
Q

What are b-amyloid fragments?

A

β-amyloid fragments are “sticky”, forming the plaques seen in the AD brain.

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9
Q

What is the function of Presenilin?

A

The presenilin proteins are part of the γ-secretase complex, which snips fragments off amyloid precursor protein (APP), releasing β-amyloid peptide into the extracellular space where it form plaques.

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10
Q

What is presenilin?

A

subcomponents of gamma-secretase mutations in PSEN1/2 leads to a gain of toxic function

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11
Q

Describe Presenilin mutation

A

Biochemically = partial loss of the γ-secretase complex function, which affects several downstream signaling pathways.

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12
Q

What are the other genes involved in multifactorial alzheimer’s?

A

APO E4 (encoded by a gene on chromosome 19), and a major risk factor for multifactorial Alzheimer’s

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13
Q

What are the environmental factors in alzheimer’s?

A

Serious head injury, High blood pressure, heart disease, stroke, diabetes and high cholesterol, Being engaged with active learning, Smoking

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14
Q

What are the variants of APO?

A

APOε2 decreases risk for AD

APO E4 binds to Aß in cerebrospinal fluid, found in plaques in AD brains, and increase risk for AD

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15
Q

What is punch-drunk syndrome?

A

a condition seen in boxers, often years after their retirement, and presumably caused by repeated cerebral injury

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16
Q

What is evidence for gene-environment interaction in alzheimer’s?

A

Risk for AD after severe head injury with loss of consciousness is much greater in individuals with one or more APOE4 alleles

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17
Q

Which genotypes are more at risk for AD?

A

E2/3, and 3/4

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18
Q

What is coronary artery disease?

A

CAD is a family of diseases that include hypertension, atherosclerosis, coronary heart disease, and stroke

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19
Q

Why is CAD worse in females?

A

because it is more common in males, so if a female has it, then its is worse

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20
Q

What is the concordance of CVD in twins?

A

Concordance : 40-65% (monozygous); 15-30% (dizygous)

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21
Q

What enzyme plays a role in CAD?

A

ACE - CAUSES VASOCONSTRICTION, INCREASE ALDOSTERONE AND ADH SECRETION, INCREASE THIRST

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22
Q

What does ACE inhibitor do?

A

ACE inhibitors block the Angiotensin Converting

Enzyme (ACE).

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23
Q

What hormones increase plasma glucose?

A

glucagon, epinephrine, cortisol, and growth hormone

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24
Q

What hormones decrease blood glucose?

A

insulin

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25
Q

Why is high plasma glucose bad?

A
  1. Activation of the protein kinase Cβ
  2. Glycation
  3. Oxidative stress
  4. Depletion of NAD+ (metabolic pseudohypoxia)
  5. Vascular dysfunction in the kidneys
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26
Q

What is the result of hyperglycemia induced activation?

A

Diabetic kidney leaks protein, and High blood pressure

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27
Q

What quantified AGE elimination by the kidneys ?

A

HbA1c; Every 1% ↓ HbA1C results in 30% decrease in Microvascular Complications

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28
Q

How are AGE formed?

A

Non-enzymatic reaction of proteins (and DNA) with glucose and and formation of adducts –> advanced glycation endproducts (AGEs).

29
Q

What is IDDM?

A

Diabetes Type 1 (IDDM)
Insulin-dependent diabetes mellitus (IDDM)
Juvenile-onset diabetes

30
Q

What is NIDDM?

A

Diabetes Type 2 (NIDDM)
Non-insulin-dependent diabetes mellitus (NIDDM)
Adult-onset diabetes

31
Q

What is destructed in type 1 diabetes - autoimmune?

A

Selective destruction of β-cells by T cells and Several circulating antibodies against β-cells

32
Q

What is the prevalence of hypoinsulinemia?

A

see in 10% of diabetic cases, and 1/200 people

33
Q

What is the 1DDM1 Locus?

A

HLA Region - HLA DR3/4-DQ2/8 genotype

34
Q

What is the 1DDM2 Locus?

A

in insulin gene INS

35
Q

What allele influences INS?

A

14-bp VNTR repeat influencing transcription of INS

36
Q

What does VNTR do?

A

Allele reduces expression of insulin in fetal thymus, reducing immunotolerance to insulin and pancreatic Island cell later in life

37
Q

What are the rates of IDDM1 and INS?

A

50% for IDDM1 and 10% for INS

38
Q

How do you calculate the heritability of diabetes?

A

a = risk of siblings/population prevalence

39
Q

What are the heritability for diabetes 1 and 2?

A 
1 = 15%
2 = 3-4%
40
Q

What is hyperinsulinemia?

A

insulin resistance

41
Q

How is type 2 diabetes treated?

A

oral hypoglycemics

42
Q

What is the rate of concordance in type 2 diabetes for twins?

A

90% (monozygous); 30-40% (dizygous)

43
Q

What is MODY-Diabetes?

A

MODY (maturity-onset diabetes of the young)

Type I-like diabetes that is inherited as autosomal dominant disease (monogenic)

44
Q

What are the various mutation in MODY?

A

MODY1 (HNF4)
MODY2 (glucokinase)
MODY3 (HNF1)
MODY4 (IDX1 islet-duodenum homeobox)

45
Q

Whats causes Hirschsprung Disease?

A

the Absence of ganglion cells in the parts of the colon and rectum

46
Q

What are the effects of short-segment HSCR disease?

A

affects the rectum and small portion of the colon 60−85% of cases

47
Q

What are the effects of long-segment HSCR disease?

A

affects a longer portion of the intestine; 15−25% of cases.

48
Q

What are the syndromic and nonsyndromic fates of HSCR?

A

70% - nonsyndromic forms (isolated)

30% - syndromes (other problems)

49
Q

Which segment of Hirschsprung Disease is more severe?

A

long-segment is more severe than short segment

3-4% and up to 17% in siblings (4:1 male to female)

50
Q

What type of disease is Hirschsprung disease?

A

oligogenic

51
Q

what are the 3 types of neural tube defects?

A

anencephaly, spina bifida, encephalocele, meningocele, myelomeningocele

52
Q

What are the genetic risk of neural tube defects?

A

Risk for first degree relatives - 4/100
Risk for second degree relatives - 1/100
Risk in population (before prevention) – 3/1000

53
Q

How is hyperhomocysteinemia caused?

A

caused by a deficiency of B vitamins and folate in diets, hypothyroidism, MTHFR C677T

54
Q

What are the risk associated with elevated homocysteine levels?

A

Coronary artery disease (atherosclerosis): Heart attack, and Stroke
Peripheral arterial disease: Venous thrombosis, Deep vein thrombosis, Pulmonary embolism
Dementia
Having a child with a neural tube defect (ie, spina bifida)

55
Q

What are some symptoms of schizophrenia?

A 
delusions
hallucinations
incoherence
catatonic or hyperactive behavior
flat affect
56
Q

What is the heritability for schizophrenia?

A

0.8 and 0.85

57
Q

what illnesses show strong correlation with schizophrenia?

A

strong positive correlation between schizophrenia, bipolar disorder, and autism, suggesting that they are caused by a common group of genes

58
Q

Hep B and minogoccus overlap with what neurological diseases?

A

migraines (strong correlation with autism), autism, and schizophrenia

59
Q

What is Direct-to-Consumer Genetic Testing?

A

Any genetic test accessible directly to the consumer without having to go through a healthcare professional.
A variety of DTC tests ranges from testing for mutations linked to cystic fibrosis to hypertension predisposition.
The lack of governmental regulation leads to a risk of potential misinterpretation of genetic information.

60
Q

What does a loss of function of presenilin causes?

A

The loss of function of presenilin causes incomplete digestion of the amyloid β-peptide and might contribute to an increased vulnerability of the brain, thereby explaining the early onset of the inherited form of Alzheimer disease.

61
Q

Dementia and APO4

A

Dementia risks are selectively increase in APOE4 carriers

62
Q

What alleles are associated with CAD?

A

ACE DD, ID, II alleles: DD genotype is associated with CAD

63
Q

how is hypo hyperinsulinemia treated?

A

hyper - oral hypoglycemics

hypo - insulin injections

64
Q

What is the Genetic Information Nondiscrimination Act?

A

Prohibits group health plans and health insurers from denying coverage to a healthy individual or charging that person higher premiums based solely on a genetic predisposition to developing a disease in the future
Bars employers from using individuals’ genetic information when making hiring, firing, job placement, or promotion decisions

65
Q

What is the evident for gene-gene interactions?

A

Patients with PSEN1 mutation and E4 allele develop disease earlier than those with PSEN1 mutation and E3/E2 alleles

66
Q

breast cancer and mental illness

A

Genes that make women more vulnerable to breast cancer appear to be somewhat protected against bipolar disorder and schizophrenia

67
Q

What are the symptoms of punch drunk syndrome?

A

weakness in the lower limbs, unsteadiness of gait, slowness of muscular movements, tremors of hands, dysarthria, and slow thinking.

68
Q

What is insulin resistance?

A

the normal amount of insulin secreted by the pancreas is not enough stimulus for the cells to make them uptake the glucose (cells are insulin resistant)

69
Q

What is the hertability for neural tube defects?

A

Heritability = 0.6

Human Genomic (5 decks)

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