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FDN1 by Minnie > FDN1 Genetics > Flashcards

FDN1 Genetics Flashcards

Learn inheritance patterns, pathology, and defining features of genetic disorders

1
Q

What is the inheritance pattern of Tay-Sachs Disease?

A

Autosomal Recessive

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2
Q

Name 5 major lysosomal storage diseases

A

Tay-Sachs, Mucopolysaccharidoses (Hunter and Hurler), Gaucher, I-Cell Disease, Cystineosis

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3
Q

What is the deficient protein in Tay Sachs Disease?

A

Hex A

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4
Q

What substance accumulates in Tay Sachs Disease?

A

GM2 Ganglioside

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5
Q

What is the inheritance pattern of I-Cell Disease?

A

Autosomal recessive

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6
Q

What is the mechanism of action in I-Cell Disease

A

Lysosomal enzymes aren’t glycosylated, therefore they lack the Mannose-6-Phosphate residues that target them to the lysosomes. They are excreted from the cell

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7
Q

What is a possible treatment for I-Cell Disease?

A

Side chain modification to target enzymes to lysosomes

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8
Q

What is the inheritance pattern of MPS disorders?

A

Autosomal Recessive except Hunter, which is X-recessive

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9
Q

Which diseases provide evidence that a single defect can affect the function of multiple enzymes?

A

I-Cell Disease, Multiple Carboxylase Deficiency

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10
Q

What substance accumulates in MPS disorders?

A

Mucopolysaccharides, also known as glycosaminoglycans

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11
Q

What gene carries the mutation to cause an MPS disorder?

A

Mutations in multiple genes are possible

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12
Q

If cells from two individuals with different MPS disorders can “cross-correct” each other, they must have ________ heterogeneity

A

Locus Heterogeneity

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13
Q

If cells from two individuals with different MPS disorders cannot “cross correct” each other, they must have

A

Allelic Heterogenity; different mutations in the same gene

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14
Q

Give two examples w/definitions of genetic heterogeneity

A

Locus heterogeniety: Mutations at different loci cause similar phenotypes

Allelic heterogeneity: Different mutations in the same gene can result in similar phenotypes

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15
Q

What is the inheritance pattern of Gaucher’s Disease?

A

Autosomal Rescessive

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16
Q

What substance accumulates in Gaucher’s Disease?

A

Glucocerebroside

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17
Q

What enzyme is deficient in Gaucher’s Disease?

A

Glucocerebrosidase

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18
Q

Name 3 common symptoms of Gaucher’s Disease

A

Splenomegaly, hetpatomegaly, bone pain

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19
Q

What disorder could be treated by reducing glucocerebroside production?

A

Gaucher Disease

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20
Q

What is the inheritance pattern of Propionic Acidemia

A

Autosomal Recessive

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21
Q

A newborn presents with acidic blood and urine. Which two genetic disorders is this most concerning for?

A

Propionic Acidemia and Multiple Carboxylase Deficiency

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22
Q

Which disorders are examples of toxic alternative metabolite production?

A

Propionic Acidemia, Multiple Carboxylase Deficiency

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23
Q

Which disorders are examples of product deficiency?

A

Multiple carboxylase deficiency, Glycogen storage diseases

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24
Q

Biotin supplements would treat….

A

Multiple carboxylase deficiency

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25
Q

What is the inheritance pattern of multiple carboxylase deficiency?

A

Autosomal Recessive

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26
Q

Which 3 mechanisms result in abnormal function when only one allele is mutated?

A

Haploinsufficiency, Dominant Negative Effects, Gain of function

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27
Q

Which 3 mechanisms result in abnormal function when an individual is homozygous for the mutated allele?

A

Substrate accumulation, product deficiency, production of alternative (toxic) metabolites

28
Q

What is the inheritance pattern of familial hypercholesterolemia?

A

Autosomal Dominant

29
Q

What is the mechanism of disease in familial hypercholesterolemia?

A

Haploinsufficiency - There are not enough LDL receptors to effectively lower blood cholesterol levels

30
Q

What is a possible treatment for hypercholesterolemia?

A

Administer STATINS to inhibit HMG-CoA Reductase

31
Q

Name 5 trinucleotide repeat diseases

A

Fragile X Syndrome, Myotonic Dystrophy, Huntington’s SBMA, Fredrich’s Ataxia

32
Q

What is the inheritance pattern of Insulin Chicago?

A

Autosomal Dominant

33
Q

What is the mechanism of disease in Insulin Chicago

A

Dominant Negative - Insulin Chicago interferes with the normal action of insulin

34
Q

What is the inheritance pattern of Osteogenesis Imperfecta (Severe Phenotype)?

A

Autosomal Dominant, but due to a de novo mutation because individuals who inherit the gene cannot reproduce

35
Q

What is the mechanism of disease in Osteogenesis Imperfecta

A

Severe form: Dominant Negative - Abnormal collagen subunit prevents the formation of normal Type 1 collagen multimers

Mild Form: Haploinsufficieny - Not enough collagen multimers are formed

36
Q

What is the inheritance pattern of Achondroplasia?

A

Autosomal Dominat

37
Q

What is the mechanism of action in Achondroplasia?

A

Gain of Function - Growth plate differentiation is constitutively on

38
Q

What is a possible treatment for Achondroplasia?

A

Alter peptide structure of inhibitor of the growth plate differentiation pathway to increase its half life, inhibit the pathway that is constitutively on

39
Q

Give two examples of Gain of Function, Autosomal Dominant disorders

A

Achondroplasia, Familial male precocious puberty

40
Q

What is the inheritance pattern of familial male precocious puberty?

A

Autosomal dominant, sex limited (only affects males!)

41
Q

What is the mechanism of action in familial male precocious puberty?

A

Gain of Function - Lutenizing hormone receptor is constitutively on

42
Q

What is the inheritance pattern of Fragile X Syndrome?

A

X-Linked Dominant

43
Q

What is the mechanism of disease in Fragile X Syndrome?

A

Loss of Function - CGG repeats in an intron of the FMR1 gene cause overmethylation of the promoter, leading to decreased transcription of FMR1

44
Q

What is the inheritance pattern of Duchenne Muscular Dystrophy?

A

X-Linked Recessive, but 1/3 of all new cases are a result of de-novo mutation

45
Q

What is the mutation that causes Duchenne Muscular Dystrophy?

A

Nonsense mutation in dystrophin gene that creates an early stop codon

46
Q

What are two possible treatments for Duchenne Muscular Dystrophy?

A

Read through, exon skipping

47
Q

Why are successive generations more likely to be affected by Fragile X Syndrome?

A

This disorder exhibits anticipation. The CGG repeats expand in oogenesis, making it more likely that a child will have more repeats than their parent

48
Q

When a child presents with developmental delay, which two genetic tests should always be performed?

A

PCR for fragile x, microarray

49
Q

What is the inheritance pattern of SBMA?

A

X-Linked Recessive

50
Q

What is the mechanism of disease in SBMA?

A

Gain of Function - CAG repeats in an exon cause a polyglutamine tract in the resultant protein, in a region important for interactions with other proteins. The mutant is toxic

51
Q

What is the inheritance pattern of Myotonic Dystrophy?

A

Autosomal Dominant

52
Q

What is the mechanism of disease in Myotonic Dystrophy?

A

Gain of Function - Trinucleotide Repeats in 3’ UTR

53
Q

What is the inheritance pattern of Huntington Disease?

A

Gain of Function - CAG repeats in an exon

54
Q

What causes Prader-Willi Syndrome?

A

Failure to express part of PATERNAL chromosome 15

55
Q

What causes Angelman Syndrome?

A

Failure to express part of MATERNAL chromosome 15

56
Q

Which two disorders provide evidence for the importance of genetic imprinting?

A

Prader-Willi and Angelman

57
Q

What are some symptoms of Prader-Willi Syndrome?

A

Hypotonia, failure to thrive, obesity, hyperphagia, hypogonadism, small hands and feet

58
Q

What are some symptoms of Angelman’s Syndrome?

A

Inappropriate laughter, ataxia, seizures, growth deficiency, intellectual disability

59
Q

Give some examples of commonly mutated oncogenes in cancer predisposition syndromes

A

Ras, Myc

60
Q

Give some examples of commonly mutated tumor suppressor genes in cancer predisposition syndromes

A

P53

61
Q

Give 2 examples of cancer predisposition syndromes that affect tumor suppressors

A

Li Fraumeni

Retinoblastoma

62
Q

Give an example of cancer predisposition syndromes that affect oncogenes

A

MEN2

63
Q

Give 2 examples of cancer predisposition syndromes that affect chromosomes stability

A

Ataxia Telangiectasia, Fanconi Anemia

64
Q

A couple that wants to have a baby has a history of spontaneous miscarriage and a child with down syndrome. What genetic testing would you recommend?

A

Karyotype or FISH to see if either parent is a translocation carrier

65
Q

What is the difference between early-onset and late-onset Multiple Carboxylase Deficiency?

A

Early-onset is caused by a deficiency in HOLOCARBOXYLASE SYNTHASE (Normally catalyzes the binding of biotin to the carboxylase.)

Late-onset is caused by a deficiency in BIOTINASE (Normally catalyzes the removal of biotin from the carboxylase and recycling)

66
Q

Describe some symptoms of osteogenesis imperfecta

A

Blue sclerae, extreme bone fragility, multiple fractures

FDN1 by Minnie (1 decks)

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