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MCB1 Block 4 > Recessive Diseases > Flashcards

Recessive Diseases Flashcards

1
Q

What is mode of inheritance for DMD?

A

X-linked recessive

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2
Q

What kinase is elevated in DMD?

A

serum creatine kianse

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3
Q

What is most common cause of death for DMD?

A

cardiac or respiratory failure

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4
Q

Which disease can you not lift your head when lying and which an you lift it?

A

cannot lift: DMD can lift: BMD

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5
Q

Where is the mutation for DMD & BMD?

A

dystrophin

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6
Q

What is type of mutation for DMD

A

null mutation, deletions, frameshifts, nonsense - complete loss of fuction
no dystrophin

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7
Q

What is type of mutation for BMD?

A

in frame deletion

partially functional dystrophin

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8
Q

Where are the deletions in dystrophon in BMD less severe?

A

in middle of dystrophin protein

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9
Q

Do DMD pts reproduce?

A

No

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10
Q

Do BMD pts reproduce?

A

yes

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11
Q

If exon length is not a multiple fo three which MD is it?

A

DMD

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12
Q

If exon length is a multiple of 3 what MD is it?

A

BMD

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13
Q

What is a way to stop DMD from happening genetically?

A

have it Read through the stop codons

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14
Q

Inborn error of metabolism means what?

A

disorder caused by deficiency of enzymes involved in metabolic pathways

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15
Q

What is an enzymopathy?

A

general term for disease caused by enzyme deficiency

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16
Q

What is mode of interitance for enzymopathies

A

almost always recessive

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17
Q

Why are enzymopathies recessive?

A

the one allele produces enough phenotype needed

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18
Q

How does pathology occur in enzymopahy?

A

disease occurs b/c of stubstrate accumulation and/or product deficiency

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19
Q

Phenylketonuria, alkaptonuria, albanism, homocysteinuria, maple syrup urine disease are alle xamples of what kind of disease

A

amino acid metablism disease, they are enzymopathies

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20
Q

what diseases occur due to mutation of Phe, Tyr metabolism pathway?

A

Phenylketonuria, alkaptonuria, albanism

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21
Q

Can we synthesize phenylalanine?

A

No, get it from diet from proteins

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22
Q

What aa does phenylalanine get turned into?

A

tyrosine

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23
Q

can we synthesize tyrosine?

A

yes

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24
Q

What important things is tyrosine used for?

A

tissue proteins, melanin, catecholamines, fumarate acetoacetate

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25
Q

Phenylalanine Hydroxylase (PAH) mutation is what disease?

A

Phenylketonuria (PKU)

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26
Q

enzyme: HGD is what disease?

A

alkaptonuria

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27
Q

What does PAH stand for?

A

Phenylalanine Hydroxylase

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28
Q

What does PKU stand for?

A

Phenylketonuria

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29
Q

PKU has elevated phenylalanine in the blood, what is the name of this?

A

hyperphenylalaninemia

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30
Q

What is main clinical presentation of PKU?

A

mental retardation

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31
Q

Mental retardation, musty odor, developmental delays, micrcephaly, hypopigmentation are symptoms of what disease?

A

PKU

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32
Q

Accumulating phenylalanine is converted to what in PKU

A

Phenylpyruvate and other ketoacids

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33
Q

What is the affect of the accumulation of phenylalanine that is converted to Phenylpyruvate and other ketoacids?

A

toxic effects

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34
Q

What is the treatment of PKU

A

dietary restriction of Phe (phenylalanine)

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35
Q

When does pt need to start PKU treatment?

A

within first month

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36
Q

When does pt need to start PKU treatment?

A

within first month

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37
Q

what disease helped initiate use of newborn screening

A

PKU

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38
Q

If pts with PKU has restricted diet in first month what is there IQ?

A

normal

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39
Q

If a pt has been on restricted diet and has normal IQ, what happens if they go on normal diet

A

It very slowly lowers their IQ, takes years to lower it

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40
Q

If a female with PKU becomes pregnant, what is it very important she do?

A

stick to restricted low Phe diet

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41
Q

What happens if embryo is exposed to high Phe even if they are heterozygous

A

the baby is affected b/c of the high exposure to Phe

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42
Q

What gene is affected in PKU?

A

PAH

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43
Q

Describe allelic heterogeneity in PKU

A

b/w different races there are different mutations on same gene that can cause PKU

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44
Q

What is hyperphenylalaninemia?

A

elevated phenylalanine in blood

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45
Q

Any mutation lead that leads to defeiciency of cofactor will also lead to what

A

hyperphenylalniniemia

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46
Q

what are the two ways you can end up with tetrahydrobiopterin?

A

two enzymes will block BH4 and lead to hyperphenylalninemaia
tyrosine hydroxylase
tryptophan hydroxylase

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47
Q

besides accumulation of phenylalanine, what happens in BH4 deficiency?

A

defieicency of neurotransmitters and serotonin

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48
Q

What are two ways to treat BH4 defieciency?

A

restricted diet

give them neurotransmitter precursers

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49
Q

What are the 5 genes that can lead to hyperphenylalaninemia?

A

PKU
2 genes in BH4 synthesis
2 genes involved in BH4 recyling

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50
Q

What is the name of the black urine disease?

A

alkaptonuria

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51
Q

where is the enzyme deficiency in alkaptonuria?

A

homogentisate 1,2-dioxygenase (HGD)

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52
Q

What does HGD stand for?

A

homogentisate 1,2-dioxygenase

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53
Q

What is HGD often referred to as?

A

homogentisic acid oxidase (HGO)

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54
Q

what is mode of inheritance for alkaptonuria?

A

AR

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55
Q

What accumulates in alkaptonuria?

A

Homogentisic Acid

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56
Q

What happens with accumulation of Homogentisic Acid?

A

it oxidizes, and the products accumulate in soft tissues

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57
Q

What is ochronosis

A

bluish-black discoloration of soft tissues

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58
Q

the damage to cartilage in alkaptonuria can cause what?

A

osteoarthritis

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59
Q

What can potentiall yhappen to heart in alkaptonuria?

A

calcification of aortic valve

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60
Q

What is mode of inheritance for oculocutaneous abinism?

A

AR

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61
Q

OCA1 is what?

A

oculocutaneous albinism

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62
Q

where is deficiency in OCA1?

A

tyroinase (TYR)

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63
Q

why does OCA1 cause lack of pigment in skin?

A

inabilityt o convert tyrosine to melanin

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64
Q

what are the two varients of OCA1?

A

OCA1A & OCA1B

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65
Q

which varient of OCA1 is most severe?

A

OCA1A

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66
Q

What is OCA1B?

A

oculocutaneous albinism, less severe, residual activity

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67
Q

What is OCA1A?

A

oculocutaneous albinism, the severe form, no pigmentation, easily burned, visual acuity defects

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68
Q

Where is defieiceny in homocystinuria?

A

cystathionine beta synthase

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69
Q

what does CBS stand for?

A

cystathionine Beta synthase

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70
Q

what is mode of inhertiance for homocystinuria?

A

AR

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71
Q

What cofactor does CBS need?

A

Pyridoxal phosphate

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72
Q

what does PLP stand for?

A

pyridoxal phosphate

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73
Q

What is clinical presentation of homocystinuria

A 
intellectual disability
seizures
nearsightedness, lens dislocation
osteoporosis
musculoskeletal defomritions ( long bones, similar looking to marfan syndrome)
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74
Q

PLP is an active form of what?

A

VitB6 (a vitamin)

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75
Q

What is a way to treat about 1/2 cases of Homocystinuria

A

give very high dosage of vitamin B6

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76
Q

What is VitB6 and its characteristics?

A

water soluble, not toxic vitamin

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77
Q

Why does treatment of high dosage of Vitamin B6 only work for half the cases?

A

mutation decreases cofactor binding or another mutation that could affect substrate binding, etc.

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78
Q

What enzyme is defective in maple syrup urine disease?

A

Branched-chain α-keto acid dehydrogenase complex

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79
Q

What does BCKDC stand for?

A

Branched-chain α-keto acid dehydrogenase complex

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80
Q

In maple syrup urine disease there are defective metabolism of branched-chain aa:

A

Val, Leu, Ile

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81
Q

What leads to pathology of maple syrup urine disease

A

accumulation of branched chain aa

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82
Q

What is clinical presentation of maple syrup urine disease?

A

mental retardation
seizures
urine - sweet smell (like maple syrup)
fatal if untreated

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83
Q

How do you treat maple syrup urine disease?

A

dietary restriction of branched-chain aa via artifical diet

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84
Q

Are Val, Leu, Ile essential aa?

A

yes

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85
Q

What are hemoglobinopathies?

A

defect in hemoglobin

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86
Q

what is basic structure of hemoglobin?

A

tetramer- has 4 subunits

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87
Q

What is hemoglobin function in RBC?

A

oxygen carrier in RBC

88
Q

each subunit have what in hemoglobin?

A

heme & iron that oxygen binds to

89
Q

every hemoglobin tetramer can carry how many oxygen molecuels?

A

4

90
Q

What are the two broad categories of hemoglobinopathies?

A

structural varients

thalassemias

91
Q

describe the hemoglobin structural varients

A

defectiv polypeptide, protein still there but does not function correctly. usually due to beta globin mutation

92
Q

what is most important beta globin hemoglobin mutation?

A

sickle cell disease

93
Q

where is mutation in thalassemias?

A

in alpha or beta globin

94
Q

what leads to pathology of disease in thalassemias?

A

imbalance of relative amounts of alpha and beta chains

95
Q

What is MOI in hemoglobinopathies

A

AR

96
Q

What is MOI in hemoglobinopathies

A

AR

97
Q

where does the majority of hemoglobinopathy incidence occur?

A

tropical parts of world (like sickle cell)

98
Q

HbS stands for what

A

sickle cell

99
Q

–/aa (alpha) is most common in what population?

A

SE asian & china

100
Q

Beta0 is most common in what population?

A

italian/greek

101
Q

alpha and beta globin belong to what?

A

families

102
Q

alpha globin cluster on what chromosome

A

16

103
Q

bet algobin cluster on chromosome what?

A

11

104
Q

how did globin gene families arise?

A

gene duplications

105
Q

on alpha globin locus there’s duplications, most of them are what?

A

non-functional

106
Q

how many genes are there for alpha globin?

A

two

107
Q

describe the relationship of the two alpha globin genes

A

they are expressed at the same level, very similar

108
Q

does alpha or beta globin family have more functional genes

A

beta

109
Q

during development different genes are expressed @ different times, describe how gene expression occurs on alpha globin locust?

A

it starts on zeta globin and then moves right

110
Q

what is the first alpha globin expressed?

A

zeta globin

111
Q

when is zeta globin used?

A

just in early embryogenesis

112
Q

what is first beta globin expressed

A

epsilon

113
Q

what is second beta globin expressed

A

gamma

114
Q

what are main forms of beta globin expressed in adults?

A

beta globin (and very small amounts of delta globin)

115
Q

When does gamma beta globin end?

A

6 months after birth

116
Q

delta globin is expressed when?

A

very low levels throughout life, starts being expressed just after birth

117
Q

Hemoglobin A is what?

A

adult form of hemoglobin

118
Q

Hemoglobin A2 is what

A

variant adult hemoglobin

Alpha and delta

119
Q

fetal hemoglobin is what?

A

hemoglobin F: alpha and gamma globin

120
Q

gower 1 is what hemoglobin?

A

embryonic

121
Q

If BH4 synthesis or recycling is defective what are the two results?

A

Hyperphenylalaninemia

Deficiency of catecholamines and serotonin

122
Q

Why will mental retardation still occur if a pt with BH4 defieicency is put on a Phe restricted diet?

A

there is still deficiency of neurotransmitters

123
Q

What are the three important aa in BH4 defeciency?

A

Tyrosine, Tryptophan, Phenylalanine

Tyr, Trp, Phe

124
Q

What is important product of tyr hydroxylase pathway?

A

NE & E

noepinepherine & epinepherine

125
Q

What is important product of trp hyrxoylase pathway?

A

serotonin

126
Q

What does Hb stand for?

A

hemoglobin

127
Q

What is the composition of HbA?

A

two alpha and two beta hemoglobin

128
Q

What is the composition of HbA2?

A

two alpha and two delta

129
Q

What is the composition of HbF?

A

two alpha & two gamma

130
Q

What is the composition of Hb Gower 1?

A

two zita and two epsilon

131
Q

At what age would you find HbF?

A

fetus

132
Q

At what age would you find Hb Gower 1?

A

embryo

133
Q

HbF has higher affinity for oxygen than what, and why is it important?

A

HbA - allows transport of oxygen from mom to baby

134
Q

Expression of hemoglobin is controlled by what?

A

LCR

135
Q

What is LCR

A

an enhancer

136
Q

What does LCR stand for?

A

locus control region

137
Q

In embryonic DNA LCR would drive expression of what?

A

epsilon

138
Q

In fetal DNA LCR would drive expression of what?

A

gamma

139
Q

In adult DNA LCR will drive expression of what?

A

Beta and some delta

140
Q

Hemoglobinopathies: structural variants, describe

A

normal amount of protein is produced but the protein that is produced is abnormal

141
Q

HbC is what mutation

A

beta: same codon as HbS, codon 6 glu to lys

E6K

142
Q

How will normal hemoglobin vs. sickle cell migrate differently on gel?

A

sickle cell migrates more slowly, not as negatively charged

143
Q

How does HbC run on gel compared to HbS and normal Hb?

A

HbC runs slower than both of them

144
Q

What is milder than sickle cell, no sickling of RBCs, asymptomatic, mild hemolytic anemia, splenomegaly

A

HbC

145
Q

What is a thalassemia caused by?

A

imbalance in production of globin chains

146
Q

The imbalance in production of globin chains causes what?

A

accumulation of free globin chains → insoluble, preciptate

147
Q

What is Heinz body?

A

inclusion of denatured hemoglobin

148
Q

What is hemolysis?

A

the rupture or destruction of red blood cells.

149
Q

What is being produced less in alpha thalassemia?

A

alpha globin is decreased or absent

150
Q

What kind of mutation normally occurs in alpha thalassemia?

A

gene deltions

151
Q

Chromosme 16 has how many copies of alpha globin gene

A

2 identical copies

152
Q

How many forms of alpha thalassemia are there?

A

4

153
Q

What are the four forms of alpha thalassemia?

A

silent carrier
alpha thalassemia trait
hemoglobin H disease
hydrops fetalis

154
Q

What is the clinical presentation of silent carrier of alpha thalassemia

A

none

155
Q

what is the clinical presentation of alpha thalassemia trait

A

none or minimal anemia under stress

156
Q

what is the clinical presentation of hemoglobin H disease

A

microcytic, hypochromic anemia

157
Q

What is the clinical presentation of hydrops fetalis?

A

lethal in utero

158
Q

HbH and Hb Barts have what important characteristics?

A

insoluble

159
Q

If three genes are deleted what form of alpha thalassemia is it?

A

hemoglobin H disease

160
Q

If two genes are deleted what form of alpha thalssemai is it?

A

alpha thalassemia trait

161
Q

a-/a- means what

A

a alpha gene is deleted on each chromosome

162
Q

a-/a- are called what?

A

alpha heterozygote

163
Q

a+-thal means what

A

alpha thalassemia trait

164
Q

What form of alpha thalassemia could a parent have a child with hydrops fetalis?

A

only when an entire chromosome doesn’t have any correct alpha hemoglobin, as parent donates their entire chromosome

165
Q

What kind of hemoglobin is produced in hydrops fetalis?

A

Hb Barts

166
Q

severe anemia, edema, heart failure, fatal in utero in 3rd trimester is what sdiseae?

A

hydrops fetalis

167
Q

–/– is what alpha thalassemia disease/

A

hydrops fetalis

168
Q

Does a pt with hydrops fetalis have alpha hemoglobin?

A

no

169
Q

a-/– is what alpha thalassemia disease?

A

HbH disease

170
Q

How much alpha globin is produed in HbH disease?

A

25%

171
Q

What is kind of hemoglobin is produced in HbH disease?

A

HbH (4 beta)

172
Q

microcytic, hypochromic anemia, hepatomegaly, splenomegaly is what disease?

A

HbH disease

173
Q

What does HbCS stand for?

A

Hb Constant Spring

174
Q

where is mutation in HbCS?

A

in alpha globin, a nonstop mutation

175
Q

what is a nonstop mutation

A

stop codon changed to aa codon

176
Q

describe what happens to cause HbCS

A

stop codon ismutated to aa codon resulting in longer protein

177
Q

Describe the RNA in HbCS

A

unstable

178
Q

HbCS is phenotypically similar to what

A

HbH

179
Q

Which forms of hemoglobin have very high affinities for oxygen but do not release the oxygen into the tissues?

A

Hb Barts, HbH, HbCS

180
Q

Since the two HBA genes are identical, what cn happen in meiosis

A

homologous recombination

unequal crossing over

181
Q

what is the result of unequal crossing over of HBA genes

A

one chromosome will lose a copy of gene and the other will gain a copy

182
Q

What is the result of having 3 copies of HBS on one chromosome

A

no change in phenotype

183
Q

What is the result of having 3 copies of HBS on one chromosome

A

no change in phenotype

184
Q

What is wrong in beta thalassemia

A

synthesis of beta globin is decreased or absent

185
Q

what does HBB stand for

A

beta globin

186
Q

when does phenotype usually present in beta thalassemia and why

A

in 1st year, after birth, beta globin doesnt take over until after birth

187
Q

What is the name of the heterozygous carrier state for beta thalassemia

A

beta thalassemia minor

188
Q

what is the phenotype of beta thalassemia minor

A

asymptomatic

189
Q

how much beta globin is present in beta thalassemia major

A

none

190
Q

what is the normal mutation for beta thalassemia major

A

null mutation

191
Q

what disease has severe microcytic hypochromic anemia, hepatosplenomegly, ,bone marrow expansion, skeletal changes, require regular blood transfusions (iron overload secondary to transfussions)

A

β-Thalassemia Major

192
Q

What is the main form of beta thalassemia major

A

β° Thalassemia

193
Q

What is beta thalassemia intermedia

A

like β° Thalassemia but less severe

194
Q

What is the normal mutation for mutations in beta thalassemia vs alpha

A

null mutations with no functional protein produced

Not complete deletions (like alpha)

195
Q

what is the most common cause of beta thalassemia

A

point mutations

196
Q

what do missense mutations usually result in

A

specific structural disorders with different specific phenotypes, not thalassemias

197
Q

How is Hb Lepore caused by what?

A

unequal crossing over b/w beta globin and delta globin

198
Q

How do beta and delta gobin have crossing over

A

they are so similar they can misalign

199
Q

What is the result of crossing over of beta and delta globin

A

it will be a hybrid gene, so part delta part beta

200
Q

what is the issue in Hb lepore

A

not enough beta globin being produced because delta globin is expressed at very low levels

201
Q

why is beta globin expressed at low levels in Hb lepore

A

because of the crossing over its a gene hybrid and the recombined gene uses promoter from delta globin

202
Q

why is beta globin expressed at low levels in Hb lepore

A

because of the crossing over its a gene hybrid and the recombined gene uses promoter from delta globin

203
Q

Is the recombined beta delta gene in Hb lepore functional?

A

yes but expressed at low levels so presents as beta thalassemia

204
Q

Is the recombined beta delta gene in Hb lepore functional?

A

yes but expressed at low levels so presents as beta thalassemia

205
Q

What does HPFH stand for

A

Hereditary Persistence of Fetal Hemoglobin

206
Q

What is phenotype of HPFH

A

normal

207
Q

What causes HPFH?

A

deletions of beta globin & delta globin

208
Q

In HPFH what does LCR activate?

A

gamma globin promoters

209
Q

What does AIP stand for?

A

acute intermittent porphyria

210
Q

What is the major acute hepatic porphyria?

A

AIP

211
Q

What is deficient in AIP?

A

porphobilinogen deaminase

212
Q

What is MOI for AIP?

A

AD

213
Q

Clinical presentation: Latent prior to puberty
Abdominal pain, weakness
Neuropsychiatric disturbances, hallucinations
Wine red urine
No photosensitivity
Exacerbated by hormones, drugs & diet
is what disease?

A

AIP

214
Q

What is the less common acute hepatic porphyria?

A

VP

215
Q

What does VP stand for?

A

variegate porphyria

216
Q

What is deficient in VP?

A

Protoporphyrinogen oxidase

217
Q

clinical presentation: Abdominal pain, weakness
Neuropsychiatric disturbances, hallucinations
Photosensitivity
Exacerbated by hormones, drugs & diet
is what disease?

A

VP

MCB1 Block 4 (17 decks)

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