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Unit I M2M > Diseases and protein modifications > Flashcards

Diseases and protein modifications Flashcards

1
Q

List the different types of protein modification

A
  1. Hydroxylation of proline
  2. Carboxylation of glutamate
  3. Glycosylation
  4. Acetylation/methylation
  5. Reversible phosphorylation/dephosphorylation
  6. Ubiquitination
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2
Q

What causes hemorrhage?

A

Vitamin K deficiency, resulting in gamma glutamyl carboxylase not working properly

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3
Q

Reversible phosphorylation/dephosphorylation typically occurs at what amino acids?

A

Ser, Thr, Tyr

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4
Q

What does Vitamin C deficiency result in? What disease results?

A

loss in prolyl hydroxylase = no proline hydroxylation = scurvy

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5
Q

What does ubiquitination do to a protein?

A

Marks it for degredation by proteosome

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6
Q

What enzyme is used to make hydroxyproline?

A

prolyl hydroxylase

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7
Q

What important molecules require the carboxylation of glutamate?

A

clotting factors (II, VII, IX, X ect)

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8
Q

Name two types of glycosylation

A

O-linked, N-linked

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9
Q

What residue gets acetylated by HATS?

A

Lysine residues on Histones

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10
Q

What enzyme gets targeted/prevented to treat Chronic myelogenous leukemia (CML)?

A

bcr-abl tyrosine kinase

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11
Q

Vitamin K deficiency will lead to what?

A

Hemorrage. (Vit K is needed for gamma-glutamyl carboxylase)

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12
Q

O-linked glycosylation occurs on which amino acids?

A

Ser (S) and Thr (T)

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13
Q

What enzyme is used for the carboxylation of glutamate?

A

gamma-glutamyl carboxylase

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14
Q

Where does gamma-glutamyl carboxylase attach the carboxyl group on glutamate?

A

The the R side chain of glutamate

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15
Q

What amino acid residues does ubiquitin usually get added to?

A

Lys

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16
Q

hydroxyprolines are the predominant secondary structure in what structure?

A

Collagen

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17
Q

Vitamin C is a necessary cofactor for what enzyme?

A

Prolyl hydroxylase

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18
Q

What is the most common protein modification in the cell?

A

Ubiquitination

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19
Q

Mutation in N-linked glycosylation can lead to which disorder?

A

Congenital Disorder of Glycosylation (CDG)

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20
Q

Gamma-glutamyl hydroxylase depends on what cofactor to function?

A

Vitamin K

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21
Q

N-linked glycosylation usually involve sugars binding to which amino acids?

A

Asn

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22
Q

Congenital Disorder of glycosylation involve what symptoms?

A

Developmental delay, hypertonia

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23
Q

Briefly describe how you can get scurvy

A

Vitamin C deficiency -> loss in prolyl hydroxylase activity -> no proline hydroxylase -> SCURVY BEEESSHH

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24
Q

Multiple myeloma is a disorder in which sort of protein modification?

A

Ubiquitination ( pro-apoptotic factors are being degraded by proteosomes)

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25
Q

What important cancer fighting genes depend on acytylation modification, in order for transcriptional function to occur?

A

Tumor suppressing genes

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26
Q

What are 2 diseases associated with histone acetylation (HAT’s and HDAC’s)

A
  1. Rubinstein-Taybi Syndrome

2. Leukemia

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27
Q

What is leukemia a result of?

A
  • Chromosomal translocations leading to gain of function fusion proteins
  • Fusion of transcriptional regulators with HATs or HDACs, altering the activity of the regulators
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28
Q

What type of malignancy is leukemia?

A

A hematopoietic malignancy

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29
Q

What mutation does Rubinstein-Taybi Syndrome result from?

A

Results from mutations in one copy of the CREB binding protein (CBP) gene.

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30
Q

What type of disorder is Rubinstein-Taybi Syndrome?

A

It is a rare genetic multisystem disorder (affects 1/125,000).

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31
Q

Name 3 disease that arise from mutations in DNA control elements

A

Thalassemias: (beta, and gamma-delta-beta)
Hemophilia B Leyden
Fragile X-Syndrome

32
Q

What is Beta Thalassemia a result of?

A

Deficient production of beta-globin protein.

Due to mutation in the beta-globin promoter- reducing the amount of beta-globin mRNA, thus less proteins are produced
(less promotion = less transcription)

33
Q

What form of anemia is Beta Thalassemia?

A

An inherited mild form of anemia

34
Q

What is Gamma-delta-beta Thalassemia a result of?

A

Due to deletion of the locus control region (LCR) of the beta-globin gene cluster, resulting in the loss of globin transcription.

35
Q

What form of anemia is Gamma-delta-beta Thalassemia?

A

Usually more severe form of anemia than beta.

36
Q

What is hemophilia B leyden a result of?

A

inherited mutations in a DNA control element in the promoter of the Factor IX gene.

37
Q

What type of disease is hemophilia B leyden and what are its effects?

A

X-linked disease that affects clotting. Tends to get partially better at puberty.(usually males)

38
Q

What is Fragile X-Syndrome a result of?

A

High number of CGG repeat in the 5’ region of the FMR1 gene (>200 in mutant vs ~6-50 in normal).

This facilitates methylation of the cytosine residues in CpG islands and transcriptional inactivation of the FMR1 gene.

39
Q

Describe 3 particular human disorders that arises from a mutation in a sequence specific DNA binding protein

A
  1. Craniosynostosis
  2. Androgen insensitivity syndrome (AIS)
  3. Waardenburg Syndrome type II
40
Q

What is Craniosynostosis a result of?

A

a result of a mutation in the homeodomain protein MSX2.

41
Q

What is the homeodomain protein MSX2 required for?

A

MSX2 is normally required for proper craniofacial development by affecting the transcription of a number of genes important in this process.

42
Q

What is Craniosynostosis characterized by?

A

Characterized by the premature closure of one or more sutures in the skull.

43
Q

What is Androgen insensitivity syndrome (AIS) a result of?

A

Mutations in either the DNA binding domain or the ligand binding domain of the androgen receptor (a zinc finger DNA binding protein).

44
Q

What gender does Androgen insensitivity syndrome (AIS) affect?

A

It occurs in males who are a normal karyotype (46 X,Y),

45
Q

What are some characteristics of AIS

A

AIS includes feminization or undermasculinization of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility.

46
Q

What is Waardenburg Syndrome type II a result of?

A

Mutations in the microphthalmia-associated transcription factor (MITF) gene.

47
Q

What does the microphthalmia-associated transcription factor (MITF) gene encode for?

A

MITF: a transcription factor (bHLH Sequence Specific DNA binding protein) that plays a major role in the development of melanocytes

48
Q

Symptoms of Waardenburg Syndrome type II?

A

characterized by deafness, pigmentation anomalies of the eyes, and other pigmentation defects (hair, skin).

49
Q

CREB binding protein (CBP) gene is essential for what?

A

CBP is a HAT and so it serves as a transcriptional coactivator for many different transcription factors responsible for regulating cell growth

50
Q

Mutation in the homeodomain protein MSX2 results in what disorder?

A

Craniosynostosis

51
Q

Alzheimer’s Disease (AD) is a result of the build up of which 2 important proteins?

A

Amyloid beta 42 (AB42), Tau proteins

52
Q

What proteins coded for on ch.21 can lead to AD?

A

Beta-amyloid precursor proteins

53
Q

What 2 enzymes results in the production of Amyloid Beta 42 protein?

A

Beta secretase followed by gamma-secretase

54
Q

Are Tau proteins hyper/hypo phosphorylated?
What structures do they result in?
Are they Intra/extracellular?

A

They are hyperphosphorylated

  • Result in neurofibrillary tangles.
  • Intracellular
55
Q

Apo E4 results in increase or decrease in beta amyloid plaques?

A

Increase

56
Q

Apo E4 polymorphism is found on what ch?

A

ch. 19

57
Q

Presinilin (PSEN) 2 Mutant is found on what ch?

A

ch. 1

58
Q

Presinilin (PSEN) 1 mutant results in what phenotype?

A

Increase production of amyloid beta 42 (AB42)

59
Q

The presence of what protein results in Prion’s disease?

A

PrP^SC

60
Q

Prion disease in cows are termed what?

A

Bovine Spongiform Encephalopathy (BSE)

61
Q

What happens when humans consume cows infected with Bovine Spongiform Encephalopathy (BSE)?

A

Humans get new resulting disease:

Variant Creutzfeld-Jakob Disease (vCJD)

62
Q

What type of prion disease mode of transmission results in 90% of all acquisition?

A

Sporadic acquisition

63
Q

A mutation in what gene, on what chromosome results in Genetic acquisition Prion’s Disease?

A

PRNP gene, ch 20

64
Q

What is are the secondary structures associated with normal PrPc and Infection PrPsc proteins?

A 
PrPc = alpha helical
PrPsc = beta sheet
65
Q

Name two neurodegenerative diseases discussed in class that are associated with beta-amyloid plaques

A

Alzheimers, Prion Disease

66
Q

Name four proteins that can accumulate in the brain and be involved in neurodegenerative disorders?

A

Synuclein, Beta amyloid, Tau, TDP43 (ALS)

67
Q

Parkinson’s Disease is due to the presence of what protein being misfolded?

A

alpha-synuclein

68
Q

What are the symptoms of Rubinstein-Taybi Syndrome?

A

Growth retardation,
mental retardation,
craniofacial dysmorphism, abnormally broad thumbs and great toes.

69
Q

Tumor suppressing genes depend on what type of protein modification for transcriptional function to occur?

A

acytylation modification

70
Q

Spinal muscular atrophy is due to a mutation of what gene?

A

SMN1 mutation due to splicing defect

71
Q

Alpha thalassemia results in a mutation in what?

A

mutation in poly A site (AAUAA)

72
Q

What model of disease does Reubinstein Taybi syndrome follow?

A

Haploinsufficiency model (only 1 functional copy of CREB Binding Protein gene)

73
Q

mutation in the mismatch detection mechanism of which two proteins lead to human nonpolyposis colorectal cancer (hpcc)?

A

MutS and MutL

74
Q

Sickle cell anemia base mutation is

A

E6V

75
Q

What is dysteratosis congenita a deficiency in?

A

telomerase deficiency syndrome

Unit I M2M (6 decks)

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