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Investigation Of Human Disease > connective tissue disorder 1 > Flashcards

connective tissue disorder 1 Flashcards

1
Q

Describe Ehlers-Danlos syndrome (EDS)

A

A group of heritable connective tissue disorders primarily affecting collagen-encoding genes or genes encoding collagen-modifying enzymes, characterized by symptoms like joint hypermobility, scoliosis, fragile skin, and cardiovascular abnormalities.

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2
Q

What are some characteristic symptoms of Ehlers-Danlos syndrome?

A

Joint hypermobility, scoliosis, fragile and extremely elastic skin (bruises, scarring, wound healing impairment), cardiovascular abnormalities.

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3
Q
A
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4
Q

Define the prognosis of Ehlers-Danlos syndrome

A

The prognosis varies depending on the severity of the specific subtype of the syndrome.

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5
Q

Do you know when the classification of Ehlers-Danlos syndrome began?

A

The classification of EDS started in the 1960s, with novel subtypes being increasingly discovered since 1998.

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6
Q

Describe the historical figures associated with Ehlers-Danlos syndrome

A

Edvard Ehlers and Henri-Alexandre Danlos are historically linked to the syndrome, with the syndrome named after them.

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7
Q

Describe the Berlin classification of Ehlers Danlos syndrome in 1988.

A

It included 11 different forms based on clinical findings, mode of inheritance, and biochemical alterations.

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8
Q

What are the main types in Villefranche classification of Ehlers Danlos syndrome in 1997?

A

Classical (Types I, II), Hypermobility (Type III),ascular (Type IV), Kyphoscoliosis (Type VI), Dermatosperaxis (Type VIIC), Arthrochlasia (Type VIIA, VIIB).

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9
Q

How many types are included in the 2017 International Classification of Ehlers Danlos Syndromes?

A

Thirteen types based on 19 genes.

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10
Q

Define the purpose of the International Classification of Ehlers Danlos Syndromes in 2017.

A

It guides genetic counseling for the different types.

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11
Q

Do the classifications of Ehlers Danlos syndrome differ in terms of the basis for categorization?

A

Yes, they differ based on clinical findings, mode of inheritance, biochemical alterations, and genetic basis.

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12
Q

Describe the evolution of the classification of Ehlers Danlos syndrome from 1988 to 2017.

A

It progressed from the Berlin classification with 11 forms to the Villefranche classification with 6 main types, and finally to the 2017 International Classification with 13 types based on genetic factors.

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13
Q

Describe Ehlers Danlos syndrome.

A

A genetic disorder caused by mutations affecting Collagens I, III, and V, with 40-50% of mutations found in COL5A1 or COL5A2.

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14
Q

What is haploinsufficiency in the context of Ehlers Danlos syndrome?

A

When one copy of the gene responsible for collagen production is inactivated or deleted, leading to reduced protein production.

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15
Q

How does a mutation in Collagen V impact collagen assembly in Ehlers Danlos syndrome?

A

It affects the initiation of type I collagen fibril assembly, leading to changes in fibril diameter and tissue properties.

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16
Q

Define ECM in the context of Ehlers Danlos syndrome.

A

Extracellular matrix, which is severely affected in composition, elasticity, and wound healing in EDS patients.

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17
Q

What role does Collagen type V play in collagen assembly in Ehlers Danlos syndrome?

A

It controls the initiation of type I collagen fibril assembly, acting as a template for developing type I collagen fibrils.

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18
Q

Do mutations in Ehlers Danlos syndrome result in changes in the material properties of affected tissues?

A

Yes, mutations lead to changes in the average fibril diameter and material properties of tissues.

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19
Q

Describe the impact of Ehlers Danlos syndrome on collagen assembly and the cell surface.

A

It revisits dogmas related to collagen assembly and its interaction with the cell surface, as discussed in Musiime et al’s study in Cells, 2021.

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20
Q

What is the impact of reduced hydroxylysine formation in Kyphoscoliosis (VI) in Ehlers Danlos syndrome?

A

Reduced hydroxylysine formation leads to reduced stability of the collagen triple helix.

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21
Q

Define PLOD-1 in the context of Ehlers Danlos syndrome.

A

PLOD-1 stands for procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1, which controls the production of lysyl hydroxylase 1.

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22
Q

How does PLOD-1 contribute to collagen production in Ehlers Danlos syndrome?

A

PLOD-1 is required for the hydroxylation of specific lysine residues to hydroxylysines, which are precursors for the cross-linking process essential for collagen’s tensile strength.

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23
Q

What is the role of ADAMTS-2 in dermatosperaxis (VIIc) form of EDS?

A

ADAMTS-2 is a procollagen peptidase that fails to cleave procollagen and form fibrils in dermatosperaxis (VIIc) form of EDS.

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24
Q

Define ADAMTS in the context of EDS.

A

ADAMTS stands for A Disintegrin And Metalloproteinase with ThromboSpondin domains, involved in processing pre-procollagen molecules into procollagen.

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25
Q

How are rare forms of EDS linked to defects in collagen processing?

A

Rare forms of EDS are caused by defects in collagen processing, leading to issues in the formation of collagen fibrils.

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26
Q

What is the consequence of the failure to cleave procollagen in EDS?

A

The failure to cleave procollagen in EDS results in the inability to form collagen fibrils properly.

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27
Q

What is the main mutation associated with vascular forms of Ehlers Danlos syndrome?

A

Vascular forms of EDS are primarily associated with a mutation in the COL3A1 gene, which affects the production of type III collagen.

28
Q

How does type III collagen interact with type I collagen in Ehlers Danlos syndrome?

A

Type III collagen forms heterotypic fibrils with type I collagen and serves as a ‘template’ for the formation of type I collagen, especially during development.

29
Q

Define the substitution that occurs in Ehlers Danlos syndrome affecting the collagen molecule.

A

In Ehlers Danlos syndrome, there is a substitution of glycine (GLY) which can affect almost the entire collagen molecule, leading to various symptoms.

30
Q

Describe the impact of COL3A1 mutation in Ehlers Danlos syndrome on skin and blood vessels.

A

The COL3A1 mutation in Ehlers Danlos syndrome can lead to fragility of the skin and blood vessels, as well as affect skin elasticity and other related symptoms.

31
Q

What is the focus of the study by Eble et al. in 2009 related to Ehlers Danlos syndrome?

A

The study by Eble et al. in 2009 focuses on the extracellular matrix (ECM) of blood vessels in the context of Ehlers Danlos syndrome.

32
Q

Describe the techniques used for human skin histology in the provided.

A

Array of techniques including histological section stained with haematoxylin-eosin and higher magnification stained with Fontana–Masson picrosirius histochemical method (FMPS).

33
Q

What are the different layers of the skin mentioned in the content?

A

Epidermis, Papillary dermis, Reticular dermis, Hypodermis.

34
Q

What is the title of the article mentioned in the content related to skin tissue engineering quality controls?

A

Basic Quality Controls Used in Skin Tissue Engineering by Laura Linares-Gonzalez et al. in Life, 2021.

35
Q

Describe the observation of collagen fibrils in the skin sample of Ehlers Danlos syndrome type IV (Vascular) using TEM.

A

Collagen fibrils in the skin sample are irregular, have different diameters, and the organization of space between fibrils is inconsistent.

36
Q

What can cause variable clinical phenotypes including acrogeria and vascular rupture in Ehlers Danlos syndrome type IV (Vascular)?

A

COL3A1 mutations.

37
Q

Define Ehlers Danlos syndrome type IV (Vascular) and specify the affected area mentioned in the content.

A

It is a type of EDS that affects the arteries.

38
Q

How did Pope et al. contribute to the study of Ehlers Danlos syndrome type IV (Vascular)?

A

They published a study in the British Journal of Dermatology in 1996 regarding the syndrome.

39
Q

Do collagen fibrils in the skin sample of EDS type IV (Vascular) exhibit consistent organization between them?

A

No, the organization between collagen fibrils is not consistent.

40
Q

Describe the process of collagen fibril observation via TEM mentioned in the content.

A

Observation of collagen fibrils in skin samples and fibroblast cultures using Transmission Electron Microscopy (TEM), revealing irregular fibrils with different diameters and a cauliflower-like appearance, along with inconsistent organization and spacing between fibrils.

41
Q

Define Ehlers Danlos syndrome.

A

A group of genetic connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility due to defects in collagen synthesis.

42
Q

How is Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome described in the content?

A

Described as a condition in a Chinese man exhibiting features of both Osteogenesis imperfecta type III and Ehlers-Danlos syndrome, suggesting an overlap or combination of symptoms from both disorders.

43
Q

What is the significance of the study by Lu et al. in Intractable and rare diseases research, 2018?

A

The study likely contributes to the understanding of Ehlers Danlos syndrome and collagen-related disorders through the observation of collagen fibrils via TEM in a Chinese man with overlapping symptoms of different connective tissue disorders.

44
Q

Do collagen fibrils in the mutant mice exhibit any differences compared to the control group as mentioned in the content?

A

Yes, the collagen fibrils in the mutant mice show irregularities such as different diameters, cauliflower-like appearance, and inconsistent organization and spacing between fibrils, unlike the control group.

45
Q

Describe the findings related to collagen fibrils in the study by Wenstrup et al. published in JBC, 2004.

A

The study likely discusses observations of collagen fibrils in a specific context, possibly highlighting structural abnormalities or variations in collagen organization or composition.

46
Q

How are collagen fibrils described in the content in terms of their appearance and organization?

A

Collagen fibrils are described as irregular, with different diameters, resembling cauliflower shapes, and showing inconsistent organization and spacing between fibrils.

47
Q

Define Transmission Electron Microscopy (TEM) and its role in the study.

A

TEM is a microscopy technique that uses electrons to visualize the ultrastructure of samples at a very high resolution, allowing for detailed observation of collagen fibrils in skin samples and fibroblast cultures in this study.

48
Q

What is observed in collagen fibril observation via TEM in Ehlers Danlos syndrome?

A

Collagen fibril observation via TEM in Ehlers Danlos syndrome involves examining collagen fibrils in skin samples or fibroblast cultures.

49
Q

Define a Novel Splice Variant in the N-propeptide of COL5A1 in the context of Ehlers Danlos syndrome.

A

A Novel Splice Variant in the N-propeptide of COL5A1 refers to a genetic mutation that causes an EDS phenotype with severe kyphoscoliosis and eye involvement.

50
Q

How is stress-strain analysis used in Ehlers Danlos syndrome research?

A

Stress-strain analysis is used to study the abnormal tendon ultrastructure and mechanics in classical Ehlers Danlos syndrome.

51
Q

Describe the findings of Rie Harboe Nielsen et al. in FASEB J 2014 regarding Ehlers Danlos syndrome.

A

Rie Harboe Nielsen et al. in FASEB J 2014 reported abnormal tendon ultrastructure and mechanics in classical Ehlers Danlos syndrome.

52
Q

Describe the difference in molecular weight between Alpha 1 and Alpha 2 chains in Ehlers Danlos syndrome on SDS-PAGE electrophoresis.

A

Alpha 1 chain has a higher molecular weight (~138 kDa) compared to Alpha 2 chain (100-140 kDa).

53
Q

What does it indicate when intracellular products in SDS-PAGE electrophoresis have a lower molecular weight but appear more intense?

A

It suggests that these products are present in higher quantity.

54
Q

Define SDS-PAGE electrophoresis and its role in studying Ehlers Danlos syndrome.

A

SDS-PAGE electrophoresis is a technique used to separate proteins based on their molecular weight. In Ehlers Danlos syndrome, it helps analyze the molecular characteristics of collagen chains.

55
Q

How does the retention of Alpha chains at the top of the gel in SDS-PAGE electrophoresis relate to Ehlers Danlos syndrome?

A

In Ehlers Danlos syndrome, the Alpha chains have a higher molecular weight, causing them to be retained at the top of the gel during electrophoresis.

56
Q

Do patients with Ehlers Danlos syndrome secrete more products to the media or retain more intracellularly compared to controls in SDS-PAGE electrophoresis?

A

Patients with Ehlers Danlos syndrome retain more products intracellularly than controls, even though they also secrete some products to the media.

57
Q

Describe the difference between the control and patient panels in the sequencing data provided.

A

The control panel is compared to the patient panel.

58
Q

What type of nucleotide change (C-T transition) occurred in the sequencing data, leading to a change from Arginine to Cysteine?

A

A C-T transition resulted in the codon change.

59
Q

Define the consequence of the Cysteine substitution for collagen synthesis.

A

The Cysteine substitution leads to the projection of Cysteine outside the collagen helix, forming disulphide bridges between adjacent collagen molecules.

60
Q

How is Cysteine positioned in the collagen helix due to the mutation described in the content?

A

Cysteine is projected outside of the helix.

61
Q

What is the significance of the mutation in Type I Collagen for Classical EDS according to the content?

A

Classical EDS is caused by a mutation in Type I Collagen.

62
Q

Describe what DSC thermograms are.

A

D thermograms are graphs that show the changes in heat capacity of a substance as a function of temperature.

63
Q

Describe the content of Lecture 1 on locomotor system disorders.

A

Lecture 1 covers the fundamentals of locomotor system disorders.

64
Q

What is the focus of Lecture 2 regarding inherited monogenic connective tissue diseases?

A

Lecture 2 focuses on inherited monogenic connective tissue diseases I.

65
Q

What is the main topic discussed in Lecture 3 about inherited monogenic connective tissue diseases?

A

Lecture 3 delves into inherited monogenic connective tissue diseases II.

Investigation Of Human Disease (19 decks)

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