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Molecular Basis of Disease > MBD Saturday > Flashcards

MBD Saturday Flashcards

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1
Q

Define genetic disorders

A

Genetic diseases are rare diseases that affect less than 1 in 2000 people, caused by one or more mutation(s) to the DNA sequence.

Affects 36 million people in Europe.

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2
Q

What are the main types of genetic disorders?

A
  • Single gene disorders
  • Multigenic disorders
  • Chromosomal disorders

Examples include Trisomy 21, Turner syndrome, and Klinefelter syndrome.

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3
Q

Identify types of genetic mutations.

A
  • Point mutations
  • Deletions and insertions (indels)
  • Alterations (copy number variations and translocations)
  • Alterations in regulatory RNA

Germline mutations are transmitted to offspring, while somatic mutations are not.

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4
Q

What is the difference between germline mutations and somatic mutations?

A

Germline mutations are transmitted to some/all offspring, while somatic mutations are not transmitted.

Polymorphisms are genetic alterations that have no negative effect on health.

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5
Q

What are the inheritance patterns of single-gene inheritance?

A
  • Dominant – 50% inheritance
  • Recessive – 25% inheritance
  • X-linked – modifications to the X chromosome

Dominant conditions require only one mutated allele, while recessive conditions require both alleles to be mutated.

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6
Q

Identify risk factors for developing genetic disorders.

A
  • Family history
  • Parental age
  • Consanguinity
  • Ethnic background
  • Chromosomal abnormalities
  • Environmental factors

Family history due to inheritance is a significant risk factor.

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7
Q

What is the importance of studying rare diseases?

A
  • Novel therapeutic interventions
  • Precision medicine tailored to individual genotypes
  • Global health equity
  • Identification of common mechanisms

Understanding rare diseases can lead to breakthroughs in treatment and prevention.

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8
Q

Explain the role of gene therapy.

A

Gene therapy can add or edit genetic material in cells of a person with a disease using vectors to introduce genetic material into the nucleus of a cell.

Vectors can be viral or non-viral.

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9
Q

What are the main functions of lysosomes?

A
  • Endocytosis
  • Autophagy
  • Apoptosis
  • Unfolded protein response (UPR)
  • Mitochondrial dysfunction

Lysosomes are involved in the digestion of cell products and contain over 50 acidic hydrolytic enzymes.

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10
Q

What are the main characteristics of lysosomal storage diseases (LSDs)?

A
  • Genetics and macromolecule accumulation
  • Cellular pathology – biochemical, functional, genetic

Complete loss of enzyme function is often lethal, while partial loss may lead to milder symptoms.

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11
Q

Identify symptoms of lysosomal storage diseases.

A
  • Severe intellectual disabilities
  • Cardiac abnormalities
  • Respiratory insufficiency
  • Bone deformities
  • Progressive muscle weakness
  • Eye and skin defects
  • Hepatosplenomegaly
  • Liver disease

Brain pathology includes neuronal death and neuroinflammation.

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12
Q

What are therapeutic strategies for lysosomal storage diseases?

A
  • Diagnosis by genetic mutations
  • Pharmacological chaperone therapy
  • Substrate reduction therapy
  • Enzyme replacement therapy
  • Gene therapy
  • Exosomes as therapeutic agents

Gaucher disease can be diagnosed by detecting Gcase in peripheral blood cells.

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13
Q

What is amyloidosis?

A

Amyloidosis is a condition caused by protein misfolding leading to amyloid deposits, which can be toxic to tissues.

42 different proteins can cause amyloid deposits.

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14
Q

What is the structure of amyloid fibrils?

A

Amyloid fibrils are highly organized fibrillary aggregates that are rigid, non-branching, and insoluble.

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15
Q

What factors can lead to protein aggregation and amyloid deposits?

A
  • High protein concentration
  • Post-translational modifications
  • Genetic mutations
  • Local microenvironment (metal ions and pH)

Wild type beta2-macroglobulin in dialysis can cause amyloidosis.

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16
Q

What are the available therapies for amyloidosis?

A
  • Chemotherapy
  • Stem cell transport
  • Monoclonal antibodies

These therapies aim to reduce the effects of amyloid deposits.

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17
Q

Define inborn errors of metabolism (IEMs).

A

IEMs are medical conditions caused by changes in enzymes affecting metabolism, resulting in the accumulation of toxic substances.

Onset can range from infancy to adulthood, with severe forms often manifesting in early childhood.

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18
Q

Classify different types of inborn errors of metabolism.

A
  • Intoxication disorders
  • Energy metabolism disorders
  • Storage diseases

Examples include amino acid metabolism disorders and lysosomal diseases.

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19
Q

What are common symptoms of inborn errors of metabolism?

A
  • Vomiting
  • Abnormal movement
  • Seizures
  • Weight loss
  • Progressive neurological deterioration

Symptoms can vary widely depending on the specific disorder.

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20
Q

Explain molecular mechanisms leading to symptoms of disease.

A
  • Enzymatic dysfunction
  • Genetic basis

Mutations can lead to the up/downregulation of enzymes and affect metabolic pathways.

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21
Q

What is gene therapy?

A

Gene therapy is the manipulation of gene expression to treat or prevent disease, involving gene supplementation, gene silencing, or gene editing.

It can be delivered in vivo or ex vivo.

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22
Q

Identify the structure and function of mitochondria.

A
  • Generation of ATP
  • Integral genome expression

Mitochondria are crucial for energy production through oxidative phosphorylation.

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23
Q

What are the consequences of defects in mtDNA?

A
  • Depletion of mtDNA
  • Diseases caused by qualitative or quantitative abnormalities of mtDNA

Examples include Alpers disease and other mitochondrial diseases.

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24
Q

Outline strategies to reduce transmission of mtDNA point mutations.

A
  • Egg donation
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Mitochondrial replacement therapies

These strategies aim to prevent the inheritance of mitochondrial diseases.

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25
Define neoplasia.
Neoplasia is the uncontrolled growth of cells or tissues (tumour).
26
Identify different types of cancer.
* Carcinoma * Sarcoma * Leukaemia * Lymphoma ## Footnote Each type originates from different tissue types.
27
What is the difference between benign and malignant tumors?
* Malignant – invasive, metastasizes, poorly differentiated * Benign – no metastasis, well differentiated ## Footnote Malignant tumors grow uncontrollably and invade surrounding tissues.
28
What are carcinogens?
* Tobacco smoke * UV rays * Processed meat * Radiation ## Footnote These substances can cause mutations that lead to cancer.
29
What is metastasis in cancer?
The spread of cancer cells to distant parts of the body ## Footnote Metastases frequently present depending on the stage of cancer.
30
What characterizes benign tumors?
No metastasis, well differentiated, slow growth, do not infiltrate surrounding tissue ## Footnote These tumors do not spread to other parts of the body.
31
What is the role of mutations in cancer development?
Mutations give cells a selective advantage, allowing continued division and genetic diversity in tumors.
32
List some common carcinogens.
* Tobacco smoke * UV rays * Processed meat * Radiation
33
What are proto-oncogenes?
Genes that, when mutated, can lead to increased/gain of function contributing to cancer.
34
What is the function of tumor suppressor genes?
They normally prevent uncontrolled cell growth; their complete loss of function can lead to cancer.
35
What is the role of Rb in cancer biology?
Rb is a tumor suppressor gene involved in regulating the cell cycle.
36
What does TP53 do?
It induces expression of P21 to inhibit progression of the cell cycle and is known as the guardian of the genome.
37
How do apoptotic genes affect cancer?
Upregulation of anti-apoptotic proteins like BCL-2 and downregulation of pro-apoptotic proteins like BAX/BAK can lead to cancer.
38
What is the significance of BRCA2 mutations?
BRCA2 mutations are found in hereditary breast cancer and are critical for DNA repair.
39
What are the stages of cancer infiltration?
* Stromal invasion * Migration * Intravasion * Circulation * Extravasion * Colonisation
40
What are the main treatment options for cancer?
* Chemotherapy * Radiotherapy * Surgery
41
Define haematopoiesis.
The process by which blood cells are generated, and stem cells proliferate and differentiate into mature blood cells.
42
What is the role of the bone marrow?
Source of nutrients to the bone, site of white cell production, and contains nucleated red blood cells.
43
Outline the hierarchical structure of haematopoietic cells.
* Stem cells * Progenitor cells * Precursor cells * End cells
44
How is haematopoiesis regulated?
By growth factors and environmental signals.
45
What factors influence external cues for growth and survival in haematopoiesis?
* Growth factors * Regulators (Wnt and Jagged) * Extracellular matrix components (Fibronectin and GAGs)
46
What is asymmetrical differentiation in stem cells?
Where stem cells produce one stem cell and one differentiated cell due to transcription factor activation.
47
Define acute haematological malignancies.
Malignant cells with an undifferentiated phenotype, quick disease progression, and bone marrow failure at presentation.
48
Describe chronic haematological malignancies.
Excessive proliferation of mature cells with clinical features arising due to cellular burden; bone marrow failure is a late feature.
49
What diagnostic techniques are used for leukaemia?
* Morphology * Flow cytometry * Cytogenetics * Molecular techniques
50
What is the anatomy of the pancreas?
Located in the upper abdomen, behind the stomach, between the duodenum and spleen.
51
What is the physiology of the pancreas?
* Exocrine: Digestive enzymes and bicarbonate for neutralization * Endocrine: Islets of Langerhans secrete insulin and glucagon.
52
List risk factors for pancreatic cancer.
* Family history * Diet * Obesity * Race * Smoking * Gender * Age * Diabetes * Pancreatitis
53
Identify key genetic mutations involved in pancreatic cancer.
* KRAS (activation) * CDKN2A (inactivation) * TP53 (loss) * DPC4/SMAD4 (dysfunction)
54
What is the role of the tumour stroma in cancer progression?
Promotes cancer aggressiveness by fostering tumour growth, metastatic spread, and enhancing drug resistance.
55
What percentage of pancreatic cancer patients have a resectable tumor?
Less than 20%.
56
Describe current strategies for pancreatic cancer detection.
* Blood tests * Imaging * DNA methylation profiles * DNA mutations
57
What are common types of brain tumors?
* Glioma * Meningioma * Ependymoma * Medulloblastoma
58
What genetic alterations are associated with glioblastomas?
* RTK/Ras/Pi(3)K * P53 * Rb
59
What are the major risk factors for lung cancer?
* Smoking * Chemical/workplace risks * Lung diseases * Radiation exposure * Genetics * Air pollution
60
What are the local tumor effects of lung cancer?
* Persistent cough * Coughing up blood * Breathlessness * Chest pain * Non-resolving pneumonia * Hoarse voice
61
What are systemic symptoms of lung cancer?
* Metastatic effects * Paraneoplastic syndromes
62
What is the staging process for lung cancer?
* T – Primary tumor * N – Regional lymph nodes * M – Distal metastasis
63
Differentiate between non-small cell and small cell lung cancer.
* Non-small cell: Squamous, Adenocarcinoma * Small cell: Most aggressive, neuroendocrine origin
64
What are current treatment options for lung cancer?
* Chemotherapy * Targeting driver mutations * Immune checkpoint inhibitors * Radiation * Surgery
65
Define infectious diseases.
Disorders caused by infectious agents.
66
List types of infectious agents.
* Prions * Viruses * Bacteria * Fungi * Protozoa * Helminths
67
What are the phases of disease progression?
* Incubation * Prodromal phase * Clinical phase * Convalescence
68
What are common routes of transmission for infectious diseases?
* Contact/fomite * Inhalation * Sexual transmission * Vertical transmission * Ingestion * Injection * Vector-borne * Animal contact
69
What are the first lines of defense against pathogens?
* Physical barriers * Chemical barriers * Cellular defenses
70
What is antimicrobial resistance (AMR)?
Resistance driven by misuse, overuse, lack of rapid diagnostics, and limited new antibiotics.
71
How does HIV cause AIDS?
Depletion of CD4+ T cells and gut dysbiosis.
72
Describe the lifecycle of HIV-1.
* Attachment and entry * Reverse transcription * Integration * Assembly and release
73
What is the treatment for HIV?
* Anti-retroviral therapy * Vaccination * Emerging drug targets
74
What is a chronic urinary tract infection (UTI)?
Bacterial or fungal infection of the urinary tract, common in women.
75
What are the three types of UTI?
* Acute UTI * Recurrent acute UTI * Low-level/chronic UTI
76
What are common mechanisms used by UTI pathogens to evade host responses?
Pod formation on intracellular bacterial communities.
77
What is the pathogenesis of Mycobacterium tuberculosis?
Lung infection leads to local scarring and slow growth, transmitted via aerosol.
78
What are the challenges of current TB therapy?
* Issues of single and multiple drug resistance * Genetic basis of resistance
79
What is the standard treatment regimen for TB?
* 2HRZE for 2 months * 4HR for 4 months
80
What is the mechanism of action of soniazid?
Acts on cell wall turnover via fatty acid synthase ## Footnote Soniadid is used in the treatment of tuberculosis (TB).
81
How does ethambutol function in TB treatment?
Acts on cell wall formation ## Footnote Ethambutol is also used in the treatment of tuberculosis.
82
What does DOTS stand for in TB therapy?
Direct observed therapy short course ## Footnote DOTS is a strategy to ensure adherence to TB treatment.
83
What are the challenges of current TB therapy?
* Issues of single and multiple drug resistance * The genetic basis of resistance ## Footnote Drug resistance complicates TB treatment and management.
84
What is a perceived risk associated with TB?
Perceived reduced risk of TB ## Footnote This perception can lead to complacency in TB prevention and treatment.
85
What is the interaction between TB and HIV drugs?
Interaction with HIV drugs reduces efficacy ## Footnote This interaction can complicate treatment regimens for co-infected patients.
86
What types of TB resistance exist?
* Rifampicin resistance * Multidrug resistant TB ## Footnote These forms of resistance pose significant treatment challenges.
87
What is an emerging treatment for TB?
Pretomanid ## Footnote Pretomanid is part of novel drug regimens being studied for TB.
88
What type of virus is SARS-CoV-2?
Positive sense ssRNA virus ## Footnote This classification is important for understanding its replication and infection mechanisms.
89
What diseases are classified as zoonotic?
Zoonotic diseases ## Footnote These diseases are transmitted from animals to humans, including COVID-19.
90
What role does the spike protein play in COVID-19?
Receptor binding domains for ACE2 ## Footnote The spike protein facilitates the virus's entry into host cells.
91
How does SARS-CoV-2 enter host cells?
Virus attaches to ACE2 receptor on host cells in the respiratory tract ## Footnote This is a critical step in the infection process.
92
What happens after the virus fuses with the host cell membrane?
Viral RNA enters the cell and hijacks host cell machinery to replicate ## Footnote This leads to the production of new viral particles.
93
What are the phases of COVID-19 pathogenesis?
* Phase I – direct cytotoxic effect * Phase II – endothelial cell damage, inflammation, dysregulation of RAAS * Phase III – dysregulation of the immune response (cytokine storm) * Phase IV – irreversible lung injury due to antibody response ## Footnote Understanding these phases helps in managing COVID-19 complications.
94
What diagnostic methods are used for COVID-19?
* RT-PCR * Antigen detection * Serological testing ## Footnote Each method has its own strengths and weaknesses in detecting SARS-CoV-2.
95
What is the function of lateral flow devices in COVID-19 testing?
Detect antigens ## Footnote These devices provide rapid results but may not quantify antibody levels.
96
What type of vaccine is the Oxford/Astra Zeneca?
Viral vector ## Footnote This vaccine uses a modified virus to elicit an immune response.
97
What type of vaccines are Pfizer, BioNTech, and Moderna?
RNA vaccines ## Footnote These vaccines use messenger RNA to instruct cells to produce a viral protein.
98
What is a characteristic of the Omicron variant?
An immune escape variant due to altered cell entry pathway ## Footnote This has implications for vaccine efficacy and infection rates.
99
How does the immune response to COVID-19 differ across age groups?
* In children: induces a strong antiviral response to reduce viral spread * In elderly: focuses on repair/remodelling over antiviral response, allowing viral spread ## Footnote Age-related differences in immune response can affect disease outcomes.

Molecular Basis of Disease (1 decks)

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