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Path Section II exam > Genetic diseases II > Flashcards

Genetic diseases II Flashcards

1
Q

actual genetic code present at a gene locus

A

genotype

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2
Q

the observable physical characteristic seen expressed by the genetic
code.

A

phenotype

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3
Q

Each gene is located at the same locus in each of the paired constituent chromosomes

A

allele

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4
Q

any permanent change in the DNA.

A

mutation

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5
Q

mutations are caused by?

A

ionizing radiation, chemicals or drugs, microbes (namely viruses), and advancing age

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6
Q

Patterns of Inheritance of Mendelian Disorders

A 
autosomal disorders 
X-linked disorders 
Dominant disorder 
Recessive disorder
codominance 
pleiotropy genetic heterogeneity
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7
Q

isease is caused by mutation of a gene located on one of the 44 autosomes (non-sex chromosomes).

A

Autosomal Disorders

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8
Q

isease is caused by mutation of a gene located on the X-chromosome. (There are no known disorders due to a mutation on the Y-chromosome.)

A

X-linked Disorders

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9
Q

disease that is expressed in the phenotype if the mutation is present in the genotype, i.e., both heterozygotes and homozygotes express the disease.

A

Dominant Disorder

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10
Q

Disease that is expressed in the phenotype only if both gene loci of the chromosome
pair have the pathologic mutation (homozygotes).
- Heterozygotes for the gene mutation are clinically normal, but are disease carriers.

A

Recessive Disorder

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11
Q

both alleles of the gene pair are fully expressed in the heterozygote.

A

Codominance

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12
Q

a single-gene mutation may cause many phenotypic effects.

A

Pleiotropy

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13
Q

a single-gene mutation at any of several different gene pairs may cause the same phenotypic disease.

A

Genetic Heterogeneity

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14
Q

what are the autosomal dominant mendelian disorders?

A

Familial hypercholesterolemia
Marfan syndrome
Neurofibromatosis

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15
Q

Prevalence – 1:500

A

Familial Hypercholesterolemia

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16
Q

autosomal dominant defect is caused by a mutation in a receptor protein.

A

Familial Hypercholesterolemia

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17
Q

mutation involves the gene that specifies the receptor for low-density
lipoprotein (LDL).

A

Familial Hypercholesterolemia

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18
Q

esults in impaired intracellular transport and catabolism of LDL, and thus LDL cholesterol accumulates in the plasma.

A

Familial Hypercholesterolemia

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19
Q

Premature atherosclerosis and coronary artery disease

A

Familial Hypercholesterolemia

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20
Q

Elevated serum cholesterol – heterozygotes have 2-3 fold increase
homozygotes have >5 fold increase

A

Familial Hypercholesterolemia

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21
Q

famous example is Abraham Lincoln.

A

Marfan Syndrome

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22
Q

Prevalence – 1:5,000

A

Marfan Syndrome

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23
Q

autosomal dominant defect is caused by mutations in structural
proteins.

A

Marfan Syndrome

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24
Q

Mutations in the fibrillin-1 (FBN1)

A

Marfan Syndrome

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25
Q

FBN1 has been

mapped to which chromosome

A

chromosome 15

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26
Q

Mutation produces qualitative and quantitative defects in fibrillin-1, a
glycoprotein component of

A

microfibrillar connective tissue fibers

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27
Q

Fragmentation of elastic tissue is characteristic.

A

Marfan Syndrome

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28
Q

Major collagen fibers and elastic fibers are structurally normal

A

Marfan Syndrome

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29
Q

lipid masses are present in what syndrome and what are they called?

A

Familial Hypercholesterolemia

called Soft tissue Xanthomas

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30
Q

what is the problem with marfan syndrome?

A

the microfibers that hold the collagen fibers and elastic fibers together thats that problem

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31
Q

Loss of microfibrils leads to abnormaland excessive activation of what?

A

transforming

growth factor beta (TGF-β), which in turn affects integrity of ECM.

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32
Q

syndrome where you lose elasticity which can cause valves to tear and decrease rebound

A

Marfan syndrome

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33
Q

Elongated slender habitus

A

Marfan syndrome

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34
Q

Arachnoid fingers

A

Marfan syndrome

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35
Q

hyper extendable joints

A

Marfan syndrome

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36
Q

floppy heart valves

A

Marfan syndrome

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37
Q

aortic dissection and dilation

A

Marfan syndrome

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38
Q

bilateral dislocation of lenses

A

Marfan syndrome

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39
Q

TX for marfan syndrome

A

monitor vascular changes
antihypertensives
angiotensin receptor blockers (inhibit TGF-B)

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40
Q

Neurofibromatosis Type I was previously known as?

A

Recklinghausen disease of skin

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41
Q

Neurofibromatosis type 1 accounts for what % of cases of neurofibromatosis?

A

90%

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42
Q

Neurofibromatosis is transmitted via what disorder?

A

autosomal dominant disorder

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43
Q

Caused by mutation in NF1 gene

A

Neurofibromatosis Type I

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44
Q

NF1 gene is what type of gene?

A

tumor supressor gene

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45
Q

NF1 gene codes for neurofibromin, which negatively regulates what?

A

RAS

oncoprotein.

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46
Q

mutation in NF1 causes

A

overactivity of the RAS protein, resulting the growth of tumors.

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47
Q

cafe au last spots

A

Neurofibromatosis Type I

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48
Q

Pigmented hamartomas of the iris = Lisch nodules

A

Neurofibromatosis Type I

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49
Q

Malignant transformation occurs in about 3% of patients.

A

Neurofibromatosis Type I

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50
Q

Incidence – 1:2,500 live births in US

A

Cystic fibrosis

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51
Q

Prevalence – 1:3,200 US Caucasians

A

Cystic fibrosis

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52
Q

Carrier frequency – 1:20 US Caucasians

A

Cystic fibrosis

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53
Q

autosomal recessive disorder is caused mutations of the_____ gene which
is located at chromosome ___

A

CFTR gene

chromosome 7

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54
Q

What does the CFTR gene code for?

A

membrane associated protein that serves as a chloride channel

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55
Q

CFTR genes produce defects in what?

A

transport of chloride ions across epithelial surfaces.

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56
Q

what is the result in cystic fibrosis?

A
  • epithelial cells relatively impermeable to Cl ions.
  • This causes mucus secretions to be abnormally viscid, and
  • sweat gland secretions to be abnormally salty.
  • Affects products of all exocrine glands.
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57
Q

can produce problems in the pancreas- cysts in ductal system and fibrosis in acing structures and stroma and respiratory system

A

Cystic fibrosis

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58
Q

what is used to diagnose cystic fibrosis?

A

elevated sweat chloride test

DNA probe- used to test carrier state and for prenatal diagnosis

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59
Q

what disorder is typically diagnosed due to MECONIUM ILUS?

A

Cystic fibrosis

-bowel obstruction at birth bc bile secretions that for meconium of fetus is thicker and can’t pass

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60
Q

which disorder presents with recurrent and chronic pulmonary infections and pancreatic insufficiency and malabsorption?

A

Cystic fibrosis

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61
Q

which disorder presents with mucous plugs malabsorption of fats (steatorrhea) and biliary cirrhosis (viscosity of bile)

A

cystic fibrosis

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62
Q

Tx for cystic fibrosis?

A

Antimicrobial therapy
pancreatic enzyme replacement
bilateral lung transplant
new treatment include medication targeting CFTR function

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63
Q

life expectancy for cystic fibrosis?

A

nearly 40 years

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64
Q

when you can’t convert phenylalanine to tyrosine 2 things happen …

A
  1. accumulate phenylalanine in cells that normally metabolize it and can reach toxic levels
  2. deficiency in tyrosine
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65
Q

Prevalence – 1:10,000 Caucasians

A

Phenylketonuria (PKU)

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66
Q

autosomal recessive disorder is caused by mutations in enzyme proteins.

A

Phenylketonuria (PKU)

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67
Q

severe lack of phenylalanine hydroxylase preventing

conversion of phenylalanine to tyrosine

A

Phenylketonuria (PKU)

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68
Q

age onset for phenylketonuria?

A

within weeks of birth

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69
Q

why do you get severe mental retardation in phenyketoneuria?

A

BBB not yet formed (BBB formed by glial cells) excess serum phenylalanine enters brain tissue causing impaired brain development

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70
Q

Infant will have severe mental retardation witting 6 months if not treated IQ 50-60 seizure disorder

A

phenykeonturia

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71
Q

decreased pigmentation of skin and hair

A

phenylketonuria - due tyrosine necessary for melanin synthesis ( phenylalanine hydroxylase which is lacking in phenylketonuria prevents conversion of phenylalanine to tyrosine

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72
Q

diagnosis for phenylalanine

A

biochemical tests done frequently

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73
Q

treatment for phenylalanine

A
  • dietary restrictions phenylalanine early in life
  • enzyme replacement therapy with phenylalanine ammonia lyase
  • tetrahydrobioterin (BH4) helps break down phenylalanine
74
Q

what has large doses of phenylalanine?

A

asides have aspartate(equal sugar) which increases phenylalanine

75
Q

what bacteria is responsible for recurrent and chronic pulmonary infections in cystic fibrosis?

A

pseudomonas aeruginosa and staphylococcus aureus

76
Q

Prevalence – 1:60,000 live births

A

Galactosemia

77
Q

autosomal recessive disorder of galactose metabolism is caused by
mutations in enzyme proteins.

A

Galactosemia

78
Q

Lactose from milk is metabolized to

A

glucose and galactose.

79
Q

what is there a lack of in galactosemia?

A

total lack of galactose-1-

phosphate uridyl transferase

80
Q

what does the lack of galactic-1 phosphate uridyl transferase cause?

A

preventing further metabolism of galactose-1-

phosphate.

81
Q

where does Galactose-1-phosphate and galactitol accumulate in tissues –

A

especially liver, eyes

and brain.

82
Q

Failure to thrive, with vomiting and diarrhea clinical feature of what?

A

galactosemia

83
Q

hepatomegaly and jaundice

A

galactosemia

84
Q

cataracts

A

galactosemia

85
Q

CNS changes – loss of nerve cells, gliosis, edema

A

galactosemia

86
Q

E. coli sepsis

A

galactosemia

87
Q

Tx for galactosemia?

A

galactose-free diet for first 2 years of life

88
Q

diagnosis deform galactosemia?

A

urine test for reducing sugar other than glucose \

-test for rbc’s for reduced transferase levels

89
Q

what are the lysosomal storage diseases?

A

Tay sachs disease
Niemann pick disease (type A,B and C)
Gaucher disease
Mucopolysaccharidoses

90
Q

caused by mutations in lysosomal enzyme proteins

A

lysosomal storage disease

-autosomal recessive

91
Q

what are the autosomal recessive disorders?

A 
cystic fibrosis 
phenylketonuria 
galactosemia 
lysosomal storage diseases 
Glycogen storage diseases
92
Q

why can lysosomal storage diseases be deadly?

A

lysosome being released into cytoplasm of cell has to be engulfed kills more lysosomes and can reach toxic levels and therefore death of the whole cell

93
Q

Prevalence – 1:3,500 US Ashkenazi Jews, French Canadians (~1:30 Ashkenazi
Jews are carriers.)

A

Tay sachs disease

94
Q

Deficiency of hexosaminidase A prevents degradation of GM2.

A

Tay-Sachs Disease

95
Q

what is GM2

A

gangliosides- stored in axon neuronal bodies, glial cells, peripheral nerve fibers and in autonomic system

96
Q

GM2 gangliosides are stored excessively in CNS

A

Tay-Sachs Disease

97
Q

Infants develop severe mental retardation, blindness and severe neurologic
dysfunction.

A

Tay-Sachs Disease

98
Q

Death occurs at 2-3 years of age.

A

Tay-Sachs Disease

99
Q

Diagnosis of tay sachs disease?

A
  • Heterozygotes are determined by serum hexosaminidase A level.
  • Prenatal biochemical testing is possible.
100
Q

Tx for Tay sachs disease

A

No effective treatment, can only manage complications

101
Q

accumulation of sphingomyelin and/or

cholesterol in phagocytic cells and sometimes in the CNS.

A

Niemann-Pick Disease

102
Q

deficiency of acid sphingomyelinase

A

Niemann-Pick Disease type A and B

103
Q

what does deficiency of sphingomyelin cause?

A

prevents conversion of sphingomyelin to ceramide and phosphorylcholine

104
Q

which disease has predilection for

the Ashkenazi Jewish population

A

Niemann pick Type A and B

tay sachs disease

105
Q

Characterized by severe deficiency of acid sphingomyelinase.

A

Niemann pick Type A

106
Q

Most severely affected organs are the spleen, liver, bone marrow,
lymph nodes and lungs, leading to severe visceromegaly.

A

Niemann pick Type A

107
Q

The entire CNS is involved, leading to severe neurologic

deterioration.

A

Niemann pick Type A

108
Q

Death occurs by age 3 years.

A

Niemann pick Type A

109
Q

Mutated sphingomyelinase has some residual activity.

A

Niemann pick Type B

110
Q

Affects the organ systems producing visceromegaly, particularly
hepatomegaly and splenomegaly.

A

Niemann pick Type B

111
Q

CNS is not affected.

A

Niemann pick Type B

112
Q

Most common type of Niemann pick disease

A

Niemann pick Type C

113
Q

Caused by mutation of NPC1 (95%) or NPC2

A

Niemann pick Type C

114
Q

what does amutation of NPC1 (95%) or NPC2 code for?

A

code for transport of

cholesterol out of lysosomes. Cholesterol accumulates in lysosomes.

115
Q

Affects the viscera and the CNS, leading to organ enlargement and
neurologic deterioration

A

Niemann pick Type C

116
Q

Onset is in childhood. Survival is variable.

A

Niemann pick Type C

117
Q

Patients survive into late childhood or early adulthood.

A

Niemann pick Type B

118
Q

Prenatal or postnatal testing of sphingomyelinase activity of WBC or cultured fibroblasts is possible. Carrier state can also be determined.

A

Niemann Pick disease

119
Q

Caused by deficient activity of glucocerebrosidase

A

Gaucher Disease

120
Q

what does glucocerebrosidase do?

A

cleave the glucose residue from ceramide.

121
Q

Glucocerebrosides accumulate in phagocytic cells forming what?

A

Gaucher cells

122
Q

gaucher cells are large and have what type of pathognomonic cytoplasm?

A

“wrinkled tissue paper” cytoplasm

123
Q

accumulation of gaucher cells also activates what cells?

A

macrophages

124
Q

what are the variants of gaucher disease

A

Type I (99%), Type II and type III

125
Q

chronic non-neuropathic form features bone involvement
and Hepatosplenomegaly, but NO CNS involvement. It is compatible with
long life.

A

Gaucher disease Type I

126
Q

severe CNS involvement characterizes this highly lethal variant
that manifests by age 6 months.

A

Gaucher disease Type II

127
Q

this juvenile form involves CNS and viscera.

A

Gaucher dises Type II

128
Q

20x risk of devoting Parkinson disease

A

Gaucher disease

129
Q

Diagnosis for Gauchers disease?

A

testing glucocerebrosidase levels in WBC or cultured fibroblasts. Heterozygotes can be detected

130
Q

Tx for Type I Gauchers disease?

A

a) Life-long infusions enzyme replacement of recombinant glucocerebrosidase
b) Oral glucosylceramide synthase inhibitor – reduces substrate
c) Gene therapy is emerging therapy – hematopoietic stem cells containing
corrected enzyme

131
Q

revalence – 1:25,000 (all types combined)

A

Mucopolysaccharidoses

132
Q

abnormal degradation and

subsequent accumulation of mucopolysaccharides in tissues.

A

Mucopolysaccharidoses

133
Q

dermatan sulfate, heparan sulfate,

keratin sulfate and sometimes chondroitin sulfate accumulation

A

Mucopolysaccharidoses

134
Q

Multiple organs systems are involved including liver, spleen, heart and
blood vessels

A

Mucopolysaccharidoses

135
Q

Mental retardation, cataracts, joint stiffness and coarse facial features present.

A

Mucopolysaccharidoses

136
Q

Prevalence – 1:50,000 (all types combined)

A

Glycogen Storage Diseases (Glycogenoses)

137
Q

All are caused by deficiency of a specific enzyme involved in glycogen synthesis or
degradation, resulting in excessive accumulation of glycogen in tissues.

A

Glycogen Storage Diseases (Glycogenoses)

138
Q

missing enzyme is from liver

A

Hepatic form of Glycogen Storage Diseases (Glycogenoses)

139
Q

Major clinical manifestations are hepatomegaly (from glycogen stored in
liver) and hypoglycemia.

A

Hepatic form of Glycogen Storage Diseases (Glycogenoses)

140
Q

what is the most important example and results from lack of glucose-6-phosphatase.

A

Von Gierke disease in hepatic form of glycogen storage disease

141
Q

enzymes of glycolysis are deficient in muscles

A

Myopathic forms of glycogen storage disease

142
Q

Major clinical manifestations are muscles cramps and reduced production of
lactate following exercise.

A

Myopathic forms of glycogen storage disease

143
Q

results from reduced muscle phosphorylase.

A

McArdle syndrome in Myopathic forms of glycogen storage disease

144
Q

generalized glycogenosis

A

Pompe disease in misc. types of glycogen storage disease

145
Q

what does generalized glycogenesis result from?

A

resulting from lysosomal

glucosidase (acid maltase) deficiency

146
Q

what disease can be classified as both glycogen storage and lysosomal storage disease?

A

Pompe disease

147
Q

bulky muscles from glycogen but cant use it bc can’t convert glycogen to glucose when you need it

A

Myopathic forms of glycogen storage disease

148
Q

Major findings include hepatomegaly, cardiomegaly and skeletal muscle
glycogen deposits

A

Pompe disease in misc. types of glycogen storage disease

149
Q

Death typically occurs by 2 years of age due to cardiorespiratory failure.

A

Pompe disease in misc. types of glycogen storage disease

150
Q

what is an example of an X-linked dominant disorder

A

vitamin D-resistant rickets.

151
Q

Examples of X-linked Recessive Disorders

A

a. Glucose-6-phosphate dehydrogenase deficiency
b. Hemophilia A and B
c. Agammaglobulinemia
d. Duchenne and Becker muscular dystrophies

152
Q

what is an disease that displays a variable Mendelian mode of transmission?

A

Ehlers Danlos Syndromes

153
Q

Incidence – 1:5,000 to 1:10,000

A

Ehlers Danlos Syndromes

154
Q

group of syndromes are all caused by mutations in structural proteins leading to
defects in collagen synthesis or structure.

A

Ehlers Danlos Syndromes

155
Q

Loss of tensile strength

A

Ehlers Danlos Syndromes

156
Q

Inheritance of Ehlers Danlos Syndromes

A

1) All variants are inherited as single-gene defects.
2) Some are autosomal dominant.
3) Others are autosomal recessive.
4) At least one is X-linked recessive.

157
Q

skin, ligaments and joints are affected i

A

Ehlers Danlos Syndromes

158
Q

Hyper movable joints

A

Ehlers Danlos Syndromes

159
Q

Hyperextensible skin shows extraordinary stretchability yet is extremely fragile and vulnerable to trauma.

A

Ehlers Danlos Syndromes

160
Q

Pulls collagen apart but elastic tissue is ok so rebounds well

A

Ehlers Danlos Syndromes

161
Q

skin and subcutaneous tissues are highly vulnerable to trauma
-hemorrhages easily and excessively
have collagen in bv’s so traumatized tissue bleeds like crazy

A

Ehlers Danlos Syndromes

162
Q

Structural failure of internal organs in t’s with Ehlers Danlos Syndromes

A

̈ Rupture of colon
̈ Rupture of large arteries due to vascular fragility
̈ Rupture of cornea and retinal detachment
̈ Diaphragmatic hernia

163
Q

Deficient synthesis of type III collagen is caused by?

A

Mutation in the COL3A1 gene

164
Q

what does deficiency in type III collagen and Mutation in the COL3A1 gene cause?

A

This defect causes the vascular type of EDS and is transmitted in an
autosomal dominant fashion.

165
Q

characterized by weakness of blood vessels and the bowel wall.

A

Deficient synthesis of type III collagen in EDS

166
Q

what does deficiency of lysyl hydroxyls enzyme cause?

A

Causes decreased hydroxylation of type I and III collagen thus preventing
normal cross-linking

167
Q

deficiency of lysyl hydroxyls enzyme causes

A

causes kyphoscoliosis EDS and is transmitted in an autosomal recessive fashion.

168
Q

Deficiency of type V collagen causes mutation in what gene?

A

Mutation in COL5A1 or COL5A2 causes deficient synthesis.

169
Q

Inherited in an autosomal dominant fashion and Produces classical EDS.

A

Deficiency of type V collagen

170
Q

1) 1:1,500 males

2) 1:8,000 females

A

Fragile X- syndrome

171
Q

Caused by mutation in the FMR1 gene

A

Fragile X- syndrome

172
Q

associated with long repeating

sequences of three nucleotides.

A

Fragile X- syndrome

173
Q

What is the only disease that causes mental retardation thats genetically based that is more common than fragile x- syndrome?

A

Down syndrome

174
Q

T/F down syndrome is not familial?

A

true

175
Q

mutation maps to Xq27.

A

fragile X- syndrome

176
Q

diagnosis for fragile x-syndrome

A

discontinuity in staining or constriction in q arm of X on karyotype.

177
Q

Mental retardation – moderate to severe in males

A

fragile x- syndrome

178
Q

Long face, large mandible, large everted ears, large testicles (macro-orchidism)

A

fragile x- syndrome

179
Q

Males are generally affected. 20% of males with defect are clinically normal
carriers, and may pass the defect to their grandchildren

A

fragile x- syndrome

180
Q

30-50% of carrier females have mental retardation, though not usually as severe
as in affected males.

A

fragile x- syndrome

Path Section II exam (2 decks)

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