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BIOCHEM (1st yr Med) - Harper's > Biochemical and Genetic Bases of Diseases > Flashcards

Biochemical and Genetic Bases of Diseases Flashcards

1
Q

Four Major Classes of Treatment Strategies For Genetic Disorder:

Class 1

A

(1) replace the missing product or
(2) minimize the substrate

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2
Q

Four Major Classes of Treatment Strategies For Genetic Disorder:

Class 1 treatment for familial goiter

A

administration of levothyroxine

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3
Q

Four Major Classes of Treatment Strategies For Genetic Disorder:

Class 1 treatment for PKU

A

Diet low in phenylalanine

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4
Q

Four Major Classes of Treatment Strategies For Genetic Disorder

Class 2

A

(1) replace the defective/mutant enzyme or protein
(2) increase activity of enzyme

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5
Q

Four Major Classes of Treatment Strategies For Genetic Disorder

Class 2 treatment for Gaucher disease

A

Injections of beta-glucosidase

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6
Q

Four Major Classes of Treatment Strategies For Genetic Disorder

Class 2 treatment for hemophilia

A

Injections of Factor VIII

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7
Q

Four Major Classes of Treatment Strategies For Genetic Disorder

Class 3

A

Remove excess of a stored compound

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8
Q

Four Major Classes of Treatment Strategies For Genetic Disorder

Class 3 treatment for methylmalonic aciduria

A

injections of vitamin B12

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9
Q

Four Major Classes of Treatment Strategies For Genetic Disorder

Class 3 treatment of Criglernajjar syndrome

A

Administration of Phenobarbital

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10
Q

Four Major Classes of Treatment Strategies For Genetic Disorder

Class 4

A

attempt to correct the basic genetic abnormally

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11
Q

Four Major Classes of Treatment Strategies For Genetic Disorder

Class 4 treatment of galactosemia

A

Liver transplantation

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12
Q

Points to note when diseases are considered at a biochemical standpoint

Almost every cell organelle has been involved in the genesis of various diseases

A
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13
Q

Points to note when diseases are considered at a biochemical standpoint

Different biochemical mechanisms can produce similar pathologic, clinical, and laboratory findings

A
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14
Q

Points to note when diseases are considered at a biochemical standpoint

Diseases can be caused by deficiency or excess or certain biomolecules

A
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15
Q

Points to note when diseases are considered at a biochemical standpoint

A

1) many diseases are determined genetically
2) all classes of biomolecules found in cells are affected in structure, function or amount involved or in another disease
3) Biochemical alterations that cause disease may occur rapidly or slowly (massive coronary thrombosis, cyanide poisoning, Niemann-Pick disease
4) Diseases can be caused by deficiency or excess or certain biomolecules
5) almost every cell organelle has been involved in the genesis of various diseases
6) Different biochemical mechanisms can produce similar pathologic clinical and laboratory findings

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16
Q

Human Genome Project (HGP)

A
  • October 1990 to 2003
  • discovered all the estimated 20,000 to 25,000 human genes
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17
Q

the study of large groups or populations with complex, multifactorial conditions aiming to molecularly substratify them

A

Genomics

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18
Q

Focused on families with rare inherited conditions

A

Human Genetics

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19
Q

Provides more individualized care and may also benefit population health through improved screening interventions and disease prevention for healthy propulations

A

Precision Medicine

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20
Q

Types of Genetic Testing

A

1) target a single variant
2) single-gene testing
3) gene panel
4) whole exome sequencing/whole genome sequencing (WES/WGS)

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21
Q

Types of Genetic Testing

Looks for a specific variant in one gene

Used to test family members known to have a particular variant to determine whether they have a familial condition

A

Target single variant

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22
Q

Types of Genetic Testing

Looks for genetic changes in one gene to confirm - rule in or rule out a specific diagnosis

A

Single-gene testing

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23
Q

Types of Genetic Testing

Looks for variants in more than one gene

Pinpoints a diagnosis when a person has symptoms that may fit a wide array of conditions

Disease can be caused by variants in many genes

A

Gene panel

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24
Q

Types of Genetic Testing

Analyze the bulk of an individual’s DNA when the suspected condition or genetic cause is unclear

A

Whole exome sequencing/ whole genome sequencing (WES/WGS)

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25
Q

Types of Genetic Testing

Most cost- and time-effective

A

WES/WGS

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26
Q

Reflects the proximity of genes in chromosomes

A

Genetic linkage

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27
Q

Two genes on different chromosomes show independent assortment at meisosis and are ()

A

NOT LINKED

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28
Q

Two genes are adjacent to each other unlikely to be separated at meiosis and are ()

A

TIGHTLY LINKED

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29
Q

Genetic Likage Principle

A

Genes separated but on the same chromosome will probably be inherited together unless recombination occurs during meiosis

The more distant they are from each other in the same chromosome, the greater chance of recombination occuring

Ex. if A is the disease gene and B and C are genetic markers, recombination is likely to occur much more frequently between A and C than it is between A and B

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30
Q

The genetic length of a chromosome over which one recombination event occurs per meiosis

Unit of measure

A

morgan (M)

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31
Q

Statistical estimate of whether two loci are likely to lie near each other on a chromosome and are therefore likely to be inherited together is called a ()

A

LOD score

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32
Q

a LOD score that indicates that the two loci are linked and are close to one another

A

3 or more

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33
Q

The crossing over of DNA strands between the paired chromoses

A

Recombination

34
Q

Applications of Precision Medicine

A

1) preconceptual and prenatal screening
2) pediatrics
3) Risk assessment and Family Health History
4) Oncology
5) Cardiovascular Diseases
6) Pharmacogenetic Testing

35
Q

Precision Drug Development

Trastuzumab target for breast cancer

A

HER2/Neu-positive

36
Q

Applications of Precision Medicine

Imatinib mesylate target for chronic myelois leukemia (CML)

A

BCR-ABL-positive

37
Q

Applications of Precision Medicine

Olaparib first poly(ADP)ribose polymerase (PARP) inhibitor targets what mutation of breast cancer

A

BRCA mutation

38
Q

Phenotype resulting from visible alteration in the number structure of the chromosome

A

Chromosomal disorders

39
Q

Trisomy 21

A

Down Syndrome

40
Q

Trisomy 18

A

Edward syndrome

41
Q

Trisomy 13

A

Patau syndrome

42
Q

Result of variation in one or both alleles of a gene on an autosome or sex chromosome or in a mitochondrial gene

A

Single gene disorders

43
Q

Single-gene disorder classification:

7.0 in 1000 live births

A

Autosomal Dominant

44
Q

Single-gene disorder classification:

2.5 in 1000 live births

A

Autosomal recessive

45
Q

Single-gene disorder classification:

0.5 in 1000 live births

A

X-linked

46
Q

Examples of single gene disorders

A
  • familial hypercholesterolemia
  • polycystic kidney disease
  • Huntington disease
47
Q

Metabolic defects in the respiratory chain

mutations in autosomal or X-linked genes or mutations in the genes encoded by the mitochondrial chromosome (mtDNA)

A

mitochondrial disorder

48
Q

Homoplasmy

A

If all of the mother’s mtDNA carries the mutation - all of the offspring will as well

49
Q

Heteroplasmy

A

Only a fraction of female mtDNA carries the mutation - offspring will inherited variable proportions of mutant mtDNA and their clinical features will vary in severity

50
Q

Interaction of one or more genes with one or more environmental factors

A

Multifactorial disorders

Genetic contribution predispoded the individual to the actions of environmental agents

51
Q

Account for one-half of all congenital malformations and to common chronic disorders of adulthood

Ex. hypertension, rheumatiod arthritis, psychoses, and atherosclerosis

A

Multifactorial disorders

52
Q

Genetic alteration acquired by a cell that can be passed to the progeny of the mutates cell in the course of cell division

Differ from germline mutations, which are inherited gene alterations that occur in germ cells

A

Somatic cell genetic disorders

53
Q

Is involved in autoimmune disorders, aging process

A

Somatic cell genetic disorders

54
Q

Morbidity and mortality due to genetic disease on conception and pregnancy is caused by

A

numerical chromosomal abnormalities

55
Q

Morbidity and mortality due to genetic disease on childhood

A
  • 22.1% - multifactorial disease
  • 3.9% - single gene disorder
  • 0.6% - chromosomal disorder
56
Q

Morbidity and mortality due to genetic disease on adulthood

A

Multifactorial - cancer and cardiovascular disease

57
Q

Study of the causes of a phenomenon/disease

A

Etiology

58
Q

The properties of the genetic causal factors of disease and how they behave

A

Genetic Etiology

59
Q

Study of the mechanisms by which the etiologic factors are convertes into disease states

A

Pathogenesis

60
Q

A condensation of “genetic pathogenesis” study of how anomalies in the genome are converted into the phenotypes of disorders

A

Pathogenetics

61
Q

Not applicable to multifactorial and somatic cell disorders

A

Galton-Fischer Theory

62
Q

Origination and development of an organism usually from the time of fertilizationof the egg to adult

prenatal > birth > infancy > childhood > adolescence > adulthood > death

A

Ontogeny (ontogenesis)

63
Q

Natural tendency of a living organism to continue its evolving development - property of dynamical systems to converge to a (possibly new) stable trajectory after being perturbed

A

Homeorhesis

64
Q

Discrepancies between the current and the ideal states of ontogeny are discerned and correcte

A

angular homeostasis

65
Q

Where the genetic disorder manifest early - the survivorship curve is

pattern of deterioration is dominated by a single class of insults

A

Positively skewed

ex. Duchenne muscular dystrophy

66
Q

When the disease is late - the survivorship curve is

Patient shows characteristic multiplex pathology - often difficult to say the final cuase of death and survivorship

A

negatively skewed

67
Q

Pathways and multiple-stage processes

What are the 3 potential toxicity of simple pathways

synthesis of B from A by enzyme ab

A

1.) precursor toxicity - substrate accummulates

2.) product deficit

3.) combined product deficit and precursor excess

68
Q

Pathways and multiple-stage processes

If A is absent then B is lacking and C cannot be synthesized

A

Epistasis

gene governing the first step is epistatic to that governing the second

69
Q

Pathways and multiple-stage processes

In Branched pathway - what competes for the substrate

A

Open type

70
Q

Pathways and multiple-stage processes

In Branch pathway - what path rejoins and results in parastasis

A

Closed type

Two or more pathways run in parallel, which accelerates the entire process and acts as a failsafe device should any of them fail

71
Q

Refers to multiple, even seemingly unrelated, aspects of the same syndrome

A

Pleiotropy

72
Q

several clinical properties “running together”

A

Syndrome

73
Q

The disease symptoms outwardly bear no connection to each other but are all rootes in mutations of gene FBN1

A

Marfan Syndrome

74
Q

Protein functions that involve interactions with small molecules

A

enzymes, receptors, transporters

75
Q

Proteins that perform regulatory roles

A

transcription factors & hormones

76
Q

Proteins that function in complex system

A

structural proteins

77
Q

Consequences of mutation

Can be due to a regulatory mutation

Ex. loss of sensitivity to inhibition - cancer;
affects active site of and enzyme (Vmax increased, km lowered)

A

Quantitative increase in function

78
Q

Consequences of mutation

Decrease function or loss of function

Ex. inborn error of metabolic pathways

A

Quantitative decrease in fuction

79
Q

Consequences of mutation

Due to a variant in or around the locus encoding that enzyme, resulting in a qualitative or quantitative defect

  • abnormal post translational processing of the nascent enzyme
  • abnormal subcellular localization or extracellular traffickin
  • altered affinities for substrates or cofactors
  • altered responsiveness to allosteric regulators of activity
A

Qualitative gain of function

80
Q

Consequences of mutation

  • Familial hypercholesterolemia - due to defects in the LDL receptor
  • Neoplasisa - due to defects in the tumor suppressor genes
A

Qualitative loss of funtion

BIOCHEM (1st yr Med) - Harper's (13 decks)

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