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COM MOD > Robbins Chapter 5 Key Concepts > Flashcards

Robbins Chapter 5 Key Concepts Flashcards

1
Q

Characteristics of Autosomal dominant disorders

A

Expression in heterozygous state
They affect males and females equally
Both sexes can transmit the disorder

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2
Q

What do autosomal dominant disorders not affect?

A

enzyme proteins

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3
Q

What is mostly affected in autosomal dominant disorders?

A

receptors and structural proteins

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4
Q

Characteristics of Autosomal recessive disorders

A

Both copies of a gene are mutated
Enzyme proteins are frequently involved
Males and females are affected equally

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5
Q

Characteristics of X-linked disorders

A

Transmitted by Heterozygous females to their sons who manifest the disease
Female carries usually protected because of random inactivation of X chromosome

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6
Q

Cause of Marfan Syndrome

A

mutation in FBN1 gene encoding fibrillin

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7
Q

What is fibrillin required for?

A

structural integrity of connective tissue

regulation of TGF-b signaling

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8
Q

Major tissues affected in Marfan Syndrome

A

skeleton, eyes, and cardiovascular system

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9
Q

Clinical features of Marfan Syndrome (6)

A

tall stature, long fingers, bilateral subluxation of lens, mitral valve prolapse, aortic aneurysm, and aortic dissection

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10
Q

Drugs that improve aortic and cardiac function in Marfan Syndrome

A

drugs that inhibit TGF-b signaling

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11
Q

How many variants of Ehlers-Danlos Syndrome are there?

A

6

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12
Q

What is EDS characterized by?

A

defect in collagen synthesis or assembly

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13
Q

What causes the differences in each of the variants of EDS?

A

distinct mutation involving one of several collagen genes or genes that encode other ECM proteins like tenascin-X

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14
Q

Clinical features of EDS (4)

A

fragile, hyperextensible skin that is vulnerable to trauma
hypermobile joints
ruptures of the colon, cornea, or large arteries
would healing is poor

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15
Q

Genetics of Familial Hypercholesterolemia

A

autosomal dominant disorder

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16
Q

Cause of Familial Hypercholesterolemia

A

mutations in genes encoding the LDL receptor

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17
Q

Consequences of impaired transport of LDL into the cells

A

develop hypercholesterolemia

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18
Q

Heterozygotes with Familial Hypercholesterolemia

A

elevated serum cholesterol

increased risk of atherosclerosis and coronary artery disease

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19
Q

Homozygotes with Familial Hypercholesterolemia

A

elevated serum cholesterol

high frequency of ischemic heart disease

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20
Q

How are Xanthomas formed

A

cholesterol deposits on tendon sheaths

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21
Q

What are Lysosomal Storage Diseases

A

inherited mutations leading to defective lysosomal enzyme functions giving rise to accumulation and storage of substates in lysosomes and defects in autophagy

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22
Q

Cause of Tay-Sachs Disease

A

inability to metabolize GM2 gangliosidases due to lack of alpha subunit of lysosomal hexosaminidase

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23
Q

What and where accumulates in Tay-Sachs Disease

A

GM2 gangliosides in CNS and caused mental retardation, blindness, motor weakness, and death by 2-3 years

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24
Q

Cause of Niemann-Pick Disease types A and B

A

deficiency of sphingomyelinase

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25
Q

What accumulates in Type A NP Diseases

A

sphingomylein in the nervous system resulting in neuronal damage
lipid stored in phagocytes

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26
Q

Difference between Type B NP Disease vs Type A NP Disease

A

Type B has no neuronal damage

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27
Q

Cause of NP C Disease

A

defect in cholesterol transport

28
Q

What accumulates in NP C Disease

A

cholesterol and gangliosides in nervous system

29
Q

S/S of affected children with NP C Disease

A

ataxia, dysarthria, psychomotor regression

30
Q

Cause of Gaucher Disease

A

lack of lysosomal enzyme glycocerebrosidase

31
Q

What accumulates in Gaucher Disease

A

glucocerebroside in mononuclear phagocytic cells

32
Q

Type I Gaucher Disease characteristics

A

Gaucher cells affected phagocytes become enlarged and accumulate in liver, spleen, bone marrow causing hepatosplenomegaly and bone erosion

33
Q

Type II and III Gaucher Disease characteristics

A

neuronal invovlement

34
Q

What accumulates in Mucopolysaccharidoses

A

mucopolysaccharides in liver, spleen, heart, blood vessels, brain, cornea, and joints

35
Q

Features of affected patients with MPS

A

coarse facial features

36
Q

Hurler Syndrome MPS features

A

corneal clouding, coronary arterial and valvular deposits and death in childhood

37
Q

Hunter Syndrome MPS features

A

milder clinical course than Hurler Syndrome

38
Q

What is a glycogen storage deficiency

A

inherited deficiency of enzymes involved in glycogen metabolism

39
Q

Results of glycogen storage deficiency

A

Storage of normal or abnormal forms of glycogen in liver, muscles, and other organs

40
Q

Hepatic form of glycogen storage deficiency

A

Von Gierke Disease

liver cells store glycogen due to lack of hepatic glucose-6-phosphatase

41
Q

Myopathic form of glycogen storage deficiency

A

ex. McArdle disease

lack of muscle phosphorylase gives rise to storage in skeletal muscles and muscle cramps after exercise

42
Q

Pompe Disease

A

lack of lysosomal acid maltase and all organs are affected

heart involvement in predominant

43
Q

Genetics of Down Syndrome

A

extra copy of genes on chromosome 21
most common is trisomy 21
less frequently from translocation of extra chromosomal material from chromosome 21

44
Q

Clinical features of patient with Down Syndrome

A

severe mental retardation, flat facial profile, epicanthic folds, cardiac malformation, high risk of leukemia and infections, and premature development of Alzheimer disease

45
Q

Clinical features of deletion of genes at chromosomal locus 22q11.2

A

malformations of the face, heart, thymus, and parathyroids

46
Q

Diseases associated with deletion of chromosomal locus 22q11.2

A

DiGeorge Syndrome

Velocardiofacial Syndrome

47
Q

DiGeorge syndrome characteristics

A

thymic hypoplasia
diminished T-cell immunity
parathyroid hypoplasia
hypocalcemia

48
Q

Velocardiofacial Syndrome characteristics

A

congenital heart disease of outflow tracts
facial dysmorphism
developmental delay

49
Q

Lyon Hypothesis

A

in females, one X chromosome, maternal or paternal, is randomly inactivated during development

50
Q

Cause of Klinefelter syndrome

A

2 or more X chromosomes with one Y chromosomes resulting from nondysjunction of sex chromosmes

51
Q

Characteristics of Klinefelter syndrome

A 
testicular atrophy
sterility
reduced body hair
gynecomastia
eunuchoid body habitus
*most common cause of male sterility
52
Q

Cause of Turner syndrome

A

partial or complete monosomy of genes on short arm of X chromosome (45,X most common) from absence of one X chromosome
less common from mosaicism

53
Q

Characteristics of Turner syndrome

A 
short stature
webbing of neck
cubitus valgus
cardiovascular malformations
amenorrhea
lack of secondary sex characteristics
fibrotic ovaries
54
Q

Fragile X Syndrome pathology

A

amplification of trinucleotide repeats causing loss of function

55
Q

Huntington Disease pathology

A

amplification of trinucleotide repeats causing gain of function

56
Q

Fragile X Syndrome genetics

A

loss of FMR1 gene function

57
Q

Characteristics of Fragile X Syndrome

A

mental retardation, macro-orchidism and abnormal facial features

58
Q

How many CGG repeats in a normal FMR1 gene in comparison to fragile X syndrome CGG

A

29-200 normal

4000 fragile X syndrome

59
Q

How does Fragile X tremor/ataxia occur

A

expression of FMR1 gene with a premutation

60
Q

Mechanism of Fragile X tremor/ataxia

A

accumulation of mRNA in the nucleus that binds to proteins that are essential for normal function

61
Q

What is imprinting

A

transcriptional silencing of the paternal or maternal copies of genes during gametogenesis

62
Q

How can disease be caused by imprinting

A

one gene is silenced by imprinting and the other is active but if the active gene loses the functional allele by deletion, this causes disease

63
Q

Prader Willi Syndrome cause

A

maternal imprinting of chromosome 15 and deletion of band on long arm of active paternal chromosome 15

64
Q

Prader Willi characteristics

A

mental retardation, short stature, hypotonia, hyperphagia, small hands and feet, and hypogonadism

65
Q

Angelman Syndrome

A

paternal imprinting of chromosome 15 and deletion of band on long arm of active maternal chromosome 15

66
Q

Angelman Characteristics

A

mental retardation, ataxia, seizures, inappropriate laughter

COM MOD (21 decks)

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