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Clinical Science > Lecture 3: Mendelian Disease Part One > Flashcards

Lecture 3: Mendelian Disease Part One Flashcards

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Biology 101 flashcards
1
Q

What are amyloid plaques?

A

abnormal deposits of protein called beta amyloid that is found in the space between neurons

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2
Q

What are neurofibrillary tangles?

A

formed by clumps of tau protein which is part of the structure of the microtubules that support the structure of the neuron

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3
Q

What are the consequences of amyloid plaques and neurofibrillary tangles forming?

A

the synaptic connections between neurons are lost and many neurons stop function and die… atrophy of the brain occurs… this is common in Alzheimer’s Disease

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4
Q

What inheritance pattern do most cases of early onset AD have?

A

autosomal dominant pattern

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5
Q

What chromosomes are involved in the genetics of AD? Alzheimer’s Disease

A

1, 14, and 21

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6
Q

What is amyloid precursor protein (APP gene)?

A

chromosome 21; over 30 mutations of this gene have been associated with early on-set AD

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7
Q

How is chromosome 14 involved in Alzheimer’s disease?

A

chromosome 14 is presenilin 1 (PSN1); over 150 mutations of this gene have been identified; abnormalitites in this gene lead to overproduction of a longer and more toxic beta amyloid peptide and plaque formation

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8
Q

What is the rarest of the three chromosomes associated with EOAD?

A

chromosome 1 or presenilin 2 (PSN2)

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9
Q

When does late- onset Alzheimer’s typically occur?

A

after age 65

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10
Q

What is the most firmly identified gene involved in late-onset Alzheimer’s?

A

apolipoprotein E (APOE)

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11
Q

On what chromosome is APOE found?

A

chromosome 19

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12
Q

What are the three alleles of APOE and what is their role in late-onset Alzheimer’s?

A

APOE epsilon 2- least common allele and appears to reduce risk
APOE epsilon 3- most common allele and has a neutral role in the disease
APOE epsilon 4- found in 10-15% of the population and appears to increase risk for AD and is associated with an earlier onset

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13
Q

When is an individual at the highest risk for late-onset AD?

A

when a person has two copies of APOE epsilon 4

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14
Q

What are epigenetics?

A

factors such as diet, chemical exposures and chronic illnesses can alter the DNA of genes causing certain genes to be switched on or off

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15
Q

What is one process that can alter which genes are transcribed and which are not?

A

DNA methylation

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16
Q

When can genetic testing in AD occur?

A

early-onset AD families may choose to be tested for the 3 genes that increase risk for early onset AD

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17
Q

What type of inheritance is Huntington’s Disease?

A

autosomal dominant inheritance

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18
Q

What % chance does a child of an individual with HD have of getting the disease?

A

50% chance

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19
Q

What are the manifestations associated with Huntington’s disease?

A

chorea (rapid involuntary movements), gait abnormalities, abnormal slow eye movements, psychiatric abnormalities, loss of insight, memory loss, weight loss

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20
Q

On which chromosome do HD genes exist?

A

chromosome 4

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21
Q

What does the mutated form of HD gene consist of?

A

an expanded CAG trinucleotide repeat

22
Q

What is CAG the codon for?

A

glutamine

23
Q

What causes earlier onset and higher severity of HD?

A

the higher the number of CAG repeats

24
Q

What is the significance of inheriting the HD allele from the father?

A

there is a three year earlier onset of the disease

25
Q

What is a positive test result in HD?

A

more than 40 CAG repeats; always develops HD

26
Q

What is a negative test result in HD?

A

less than 35 CAG repeats

27
Q

What is the most common lethal inherited disorder among Caucasians in the U.S.?

A

cystic fibrosis

28
Q

How is cystic fibrosis inherited?

A

in an autosomal recessive patter; both copies of gene must be present for disease

29
Q

Cystic fibrosis is caused by a defect on which gene?

A

chromosome 7; cystic fibrosis transmembrane conductor regulator (CTFR)

30
Q

What is the purpose of the CTFR gene?

A

helps regulate chloride channels in epithelial cells; channels allow for chloride to be excreted and excess sodium uptake is inhibited; water content of secretions is maintained

31
Q

What happens a patient with CF in regards to the chloride transport system?

A

defective chloride transport across the membrane and enhanced sodium absorption causes increase in water absorption

32
Q

What are the manifestations of cystic fibrosis?

A

failure to thrive/ impaired growth, chronic pulmonary infections, nasal polyps, chronic cough, abnormal lung parenchyma, right sided heart failure, pancreatic inflammation, steatorrhea (increased fat in stool), biliary cirrhosis, liver damage, portal hypertension

33
Q

What is significant about CF in males?

A

98% are infertile due to absence of vas deferens

34
Q

Which form of neurofibromatosis is more common?

A

NF1 is more common than NF2

35
Q

What is a neurofibroma?

A

a benign encapsulated tumor composed of Schwann cells tat are ectodermal in origin

36
Q

How many cases of NF1 are inherited and how many result from new mutations?

A

50% inherited

50% new mutations

37
Q

What is the inheritance pattern of NF1?

A

autosomal dominant disorder

38
Q

What is NF1 gene main function?

A

tumor suppressor gene

39
Q

Does NF1 gene have complete penetrance?

A

Yes.

40
Q

What are café-au-lait macules?

A

they appear during the first year of birth and 6 or more is highly suggestive of NF1

41
Q

What are Lisch nodules?

A

small hamartomas of the iris; more common in adult NF1 patients

42
Q

What are a few manifestations of NF1?

A

cutaneous neurofibroma, plexiform neurofibroma, optic glioma; bony abnormalities like bowing of legs, scoliosis, short stature, and osteoporosis

43
Q

What is NF2?

A

cause development of noncancerous tumors on the auditory and vestibular nerves of the body; tumors are known as schwannomas and are usually bilateral; tumors can occur in CNS; symptoms typically present later in life

44
Q

On what gene is the chromosome for NF2 found?

A

chromosome 22

45
Q

What does NF2 gene encode for?

A

protein called merlin (tumor suppressor gene)

46
Q

What is the inheritance pattern for NF2?

A

autosomal dominant inheritance

47
Q

How does polycystic kidney disease typically manifest?

A

as bilateral renal cysts but it can be a multi-organ disease

48
Q

How is polycystic kidney disease typically transmitted?

A

in an autosomal dominant pattern; rarely follows an autosomal recessive pattern

49
Q

What are the mutations for polycystic kidney disease?

A

PKD1 or PKD2

50
Q

On which chromosome is PKD1 located and what does it encode for?

A

chromosome 16 and encodes for polycystin-1

51
Q

What is the difference between PKD1 and PKD2?

A

PKD1 is 85% of the disease and has increased severity of symptoms; PKD1 also has younger onset of symptoms

52
Q

On which chromosome is PKD2 located and what does it encode?

A

on chromosome 4 and it encodes polycystin-2

Clinical Science (15 decks)

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