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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
What accumulates in Type A NP Diseases
sphingomylein in the nervous system resulting in neuronal damage lipid stored in phagocytes
26
Difference between Type B NP Disease vs Type A NP Disease
Type B has no neuronal damage
27
Cause of NP C Disease
defect in cholesterol transport
28
What accumulates in NP C Disease
cholesterol and gangliosides in nervous system
29
S/S of affected children with NP C Disease
ataxia, dysarthria, psychomotor regression
30
Cause of Gaucher Disease
lack of lysosomal enzyme glycocerebrosidase
31
What accumulates in Gaucher Disease
glucocerebroside in mononuclear phagocytic cells
32
Type I Gaucher Disease characteristics
Gaucher cells affected phagocytes become enlarged and accumulate in liver, spleen, bone marrow causing hepatosplenomegaly and bone erosion
33
Type II and III Gaucher Disease characteristics
neuronal invovlement
34
What accumulates in Mucopolysaccharidoses
mucopolysaccharides in liver, spleen, heart, blood vessels, brain, cornea, and joints
35
Features of affected patients with MPS
coarse facial features
36
Hurler Syndrome MPS features
corneal clouding, coronary arterial and valvular deposits and death in childhood
37
Hunter Syndrome MPS features
milder clinical course than Hurler Syndrome
38
What is a glycogen storage deficiency
inherited deficiency of enzymes involved in glycogen metabolism
39
Results of glycogen storage deficiency
Storage of normal or abnormal forms of glycogen in liver, muscles, and other organs
40
Hepatic form of glycogen storage deficiency
Von Gierke Disease | liver cells store glycogen due to lack of hepatic glucose-6-phosphatase
41
Myopathic form of glycogen storage deficiency
ex. McArdle disease | lack of muscle phosphorylase gives rise to storage in skeletal muscles and muscle cramps after exercise
42
Pompe Disease
lack of lysosomal acid maltase and all organs are affected | heart involvement in predominant
43
Genetics of Down Syndrome
extra copy of genes on chromosome 21 most common is trisomy 21 less frequently from translocation of extra chromosomal material from chromosome 21
44
Clinical features of patient with Down Syndrome
severe mental retardation, flat facial profile, epicanthic folds, cardiac malformation, high risk of leukemia and infections, and premature development of Alzheimer disease
45
Clinical features of deletion of genes at chromosomal locus 22q11.2
malformations of the face, heart, thymus, and parathyroids
46
Diseases associated with deletion of chromosomal locus 22q11.2
DiGeorge Syndrome | Velocardiofacial Syndrome
47
DiGeorge syndrome characteristics
thymic hypoplasia diminished T-cell immunity parathyroid hypoplasia hypocalcemia
48
Velocardiofacial Syndrome characteristics
congenital heart disease of outflow tracts facial dysmorphism developmental delay
49
Lyon Hypothesis
in females, one X chromosome, maternal or paternal, is randomly inactivated during development
50
Cause of Klinefelter syndrome
2 or more X chromosomes with one Y chromosomes resulting from nondysjunction of sex chromosmes
51
Characteristics of Klinefelter syndrome
``` testicular atrophy sterility reduced body hair gynecomastia eunuchoid body habitus *most common cause of male sterility ```
52
Cause of Turner syndrome
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
Characteristics of Turner syndrome
``` short stature webbing of neck cubitus valgus cardiovascular malformations amenorrhea lack of secondary sex characteristics fibrotic ovaries ```
54
Fragile X Syndrome pathology
amplification of trinucleotide repeats causing loss of function
55
Huntington Disease pathology
amplification of trinucleotide repeats causing gain of function
56
Fragile X Syndrome genetics
loss of FMR1 gene function
57
Characteristics of Fragile X Syndrome
mental retardation, macro-orchidism and abnormal facial features
58
How many CGG repeats in a normal FMR1 gene in comparison to fragile X syndrome CGG
29-200 normal | 4000 fragile X syndrome
59
How does Fragile X tremor/ataxia occur
expression of FMR1 gene with a premutation
60
Mechanism of Fragile X tremor/ataxia
accumulation of mRNA in the nucleus that binds to proteins that are essential for normal function
61
What is imprinting
transcriptional silencing of the paternal or maternal copies of genes during gametogenesis
62
How can disease be caused by imprinting
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
Prader Willi Syndrome cause
maternal imprinting of chromosome 15 and deletion of band on long arm of active paternal chromosome 15
64
Prader Willi characteristics
mental retardation, short stature, hypotonia, hyperphagia, small hands and feet, and hypogonadism
65
Angelman Syndrome
paternal imprinting of chromosome 15 and deletion of band on long arm of active maternal chromosome 15
66
Angelman Characteristics
mental retardation, ataxia, seizures, inappropriate laughter

COM MOD (21 decks)

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