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1

What is Familial Adenomatous Polyposis?

Polyps precursor to colorectal adenocarcinoma
Multiple adenomatous polyps
When polyps become large they cause blood in faeces

2

What are the three types of FAP?

Hyperplastic, Pedunculated and sessile

3

What pathway is involved in FAP?

APC/Wnt
APC complex dissociates from membrane and binds Beta catenin which is labelled by ubiquitin for degradation and prevents transcription. When the Axin binds to the LRP intracellular protein (bound to Wnt) the Beta catenin is free to initiate gene transcription.

4

What kind of mutations can cause FAP?

Oligomerization
Armadillo repeats
Beta catenin binding sites
Axin binding sites
Germ line mutations
Somatic mutations

5

How is FAP managed and prevented?

Genetic screening
Genetic counselling
Surveillance
Surgery

6

How is FAP treated?

Proctocolectomy with ileal pouch anal anastomisis
Subtotal/Total colectomy with ileorectal anastomosis
Total proctocolectomy with ileostoy

7

What mutations are needed for the polyps to cause cancer?

K-ras and P53 mutations

8

What are some current research areas for FAP?

Wnt-based therapies
Extracolonic manifestations
Medical and surgical techniques

9

What is cystic fibrosis?

A monogenic disorder from CFTR mutation causing errors in chloride ion movement across the apical membrane and changes in electrical potential and other ion movement.

10

What are the symptoms of cystic fibrosis?

Excess mucus through exocrine organs
Salt imbalance
Affects respiratory, digestive and reproductive systems.

11

How do you diagnose cystic fibrosis?

Clinical features and sweat testing i.e. analysis of saltiness and chloride ion concentration
Genetic diagnosis

12

What are some cystic fibrosis treatments?

Physiotherapy
Pulmonary rehabilitation
Antibiotics and bronchodilators
Gastrointestinal treatment
Counselling
Gene therapy
CFTR pharmacotherapy

13

What is neurofibromatosis?

A disease which involves a genetic mutation (NF1/NF2) causing tumours hanging off or under the skin and causes blindness and sometimes death.

14

What are vesticular nerve schwannomas?

Distinctive feature of NF2, benign neurofibromas, characteristic of schwannomatosis which is the third form of neurofibromatosis.

15

What are the genetics of NF?

Autosomal dominant
Mutations within the NF1 gene on chromosome 17 and NF2 on chromosome 22.
Premature STOP codon in NF1 encodes inactive neurofibromin which doesn't inhibit RAS P21 and allows proliferation.

16

What are some treatment options for NF?

Radiotherapy
Surgery to remove tumours
Gleevec
Tyrosine kinase inhibitors
Anti-angiogenesis therapies

17

What is alpha thalassemia?

Deficient alpha globin chain synthesis
Excess beta globin chains
Can be 1, 2, 3 or 4 deletion thalassemia

18

What is beta thalassemia?

Decreased beta globin chain production
Beta+ means less beta globin
Beta0 means no beta globin
Can be carrier, reduction or no production

19

What is thalassemia major?

Defective gene from both parents
Severe anemia, defective growth, fragile bones, yellow skin
Treated with regular blood transfusions and iron chelation therapy

20

What is thalassemia intermedia?

Severe gene plus mild gene
Paleness and moderate anemia

21

What is thalasssemmia minor?

Carrier
Small red blood cells

22

What is Hb Barr syndrome?

Loss of all 4 alpha globin chains
Build up of excess fluid, anemia, heart defects, genital abnormalities

23

What is HbH disease?

Loss of 3 alpha globin chains
Mild-moderate anemia, yellow skin, bone deformities

24

What goes wrong to produce thalassemia?

Glycine and succinyl-CoA form ALA
ALA forms protoporphyrin
Protoporphyrin and iron make heme
Heme combines with globin to make hemoglobin
When this process is disrupted it causes thalassemia

25

What are the advantages of heterozygous thalassemia?

Carriers have malaria protection against all malaria types
Beta thalassemia heterozygosity provides protection against ischemic heart disease

26

What is CAH?

When an enzymatic deficiency impedes cortisol production which feeds into the adrenal pathway causing disease.

27

What are the genetics of CAH?

Gene duplication leading to inactive CYP21A1P 21-OH gene
MIsalignment
Small scale gene conversion
Unequal meiotic crossover

28

What are the population genetics behind CAH?

@common@ human autosomal recessive
Alaskan eskimos
Ashkenazi Jews
Founder effect
Bottleneck effect from WWII

29

How is CAH prenatally treated?

Dexamethasone
Synthetic steriod, prevents/reduces virilisation

30

What are the 3 levels of deficiency?

Salt-wasting (severe)
Virilising (moderate)
Non-classical (mild)
Severity correlated to 21-OH level

31

How is a prenatal diganosis made?

Autosomal recessive
Sampling of chorionic villus
Amniotic fluid testing (amniocentesis)

32

What are the genetics of huntingtons disease?

Tri-nucleotide repeat on chromosome 4
Huntingtin gene (Htt)
CAG - glutamine codon repeated to form a polyglutamine tract
When more than 36 CAG repeats on Htt - disease
Dominant
Sex independent

33

How is the CAG repeat expanded in huntingtons?

With age and disease progression
Cis and trans elements modify CAG repeat region stability
Mismatch repair genes (MSH2/, 3, 6)
During replication and transcription

34

What is the huntingtin protein involved in?

Nerve cells
Development
High brain activity tissues
Chemical signalling
Material transport
Protein binding
Apoptosis protection

35

What happens when the Htt is mutated?

Glutamine is a polar molecule so the excess glutamine causes hydrogen bond links between fragments causing fibrous aggregates to stick together

36

What are the symptoms of huntingtons?

Age of onset is 30 - 50 years
Clumsiness
Loss of balance
Involuntary movements
Cognitive impairment
Mood swings
Sleep impairment
Increase in symptom severity with disease progression

37

How is huntingtons diagnosed?

Medical history
Diagnosis by neurologist
Direct anaylsis by counting CAG repeats
CT and MRI to see caudate nuclei and putamen
Unified huntingtons disease rating scale

38

How is huntingtons treated?

No cure
Treatment involves managing symptoms
Antipsychotics to relieve chorea and irratibility
Antidepressents for behavioural management

39

What is the prevalence of Fragile X Syndrome?

Males primarily affected with females mostly carriers

40

What are the characteristics of FXS?

Large ears, prominent jaw, long face, flat feet, large testes.
Retardation, delay in learning speech and motor skills
Autism, ADHD, impaired social skills, hand flapping, repeated behaviours

41

What is the genetic basis of FXS?

Excessive CCG repeats become methylated. FXS protein production inhibited and disease caused.

42

How is FXS diagnosed?

By testing to measure number and size of CCG repeats

43

How is FXS treated?

Symptoms treated
New research into Dampening mGluR pathway and preventing mRNA binding to DNA

44

What is Prader-Willi Syndrome?

Non-function paternal section, snoRNA cluster lost
Hypotonia
Weak muscle
Development delay
Obesity
Therapy for behaviour, mental health and growth
Environment control
High frequency of chromosome 15 abnormalities

45

What is Angelman Syndrome?

Non functional maternal section, UBE3a gene lost
Development and speech delay
Balance problems
DNA methylation analysis
Non-degenerative
Physical, speech, balance therapy
Antiepileptic medication
Social training
Possibly cured by turning on paternal UBE3a gene or increasing CaMKII

46

What is phenylketonuria?

Reduced tyrosine and increased phenylalanine levels due to PAH mutation

47

What happens when PAH is mutated?

Located on chromosome 12
Misfolding occurs, degraded by proteases
Classic or moderate PKU
Mutations in BH4 leads to HPA

48

What are the symptoms of PKU?

Mental retardation
Mousy odour
Light pigmentation
Peculiarities of gait, stance and sitting posture
Eczema
Epilepsy

49

What are the symptoms of maternal PKU?

Malformations
Congenital Heart Disease
Growth Retardation
Microcephaly
Reduced learning ability Behavioural effects

50

How is PKU diagnosed?

Screened for at birth
Recommended to be retested two weeks after birth or if child is having intellectual or developmental issues
Guthrie test, Tandem mass spectrometry

51

What is the heterozygotic advantage for PKU?

Increased fertility and optimal birthweight

52

What is duchenne muscular dystrophy?

X-linked mutation in the gene that codes for dystrophin protein. Dominant in males. Absence of a functional dystrophin leads to degeneration of skeletal and cardiac muscle fibers.

53

What are some symptoms for DMD?

Toe walking
Balance problems
Cognitive delay
Pulmonary function decline
Wheelchair
Lost ability to care for themselves
Respiratory and heart failure

54

What are two theories for DMD?

Absence of dystrophin causes DCG (links actin to extracellular matrix) becomes dysfunctional, causing sarcolemmal instability and muscle fibre damage.
Absence of dystrophin causes excess calcium and water in mitochondria, mitochondria burst leading to muscle cell necrosis.

55

What are the genetics of DMD?

Deletion, duplication or point mutation in second largest human gene
X linked recessive

56

How is DMD diagnosed?

Prenatal screening
Multiplex PCR
Creatine Kinase high levels in plasma indicate muscular dystrophy
Muscle biopsy detects dystrophin

57

How is DMD treated?

Delivery of genes as therapeutic agents but multiple injections required for treatment of all muscles.
Stem cell therapy and exon skipping but this can disrupt functioning genes if incorporated into wrong place

58

What is Leigh syndrome?

A disease that impairs energy production in mitochondria. No ATP causes cell death, damaged tissues, impairments and developmental delays.

59

What are the genetics of Leigh syndrome?

Maternal inheritance - mutation in mitochondrial ATP6 gene. Substitution of T for C results in leucine to proline conversion

60

How is Leigh syndrome treated?

Dichloroacetate lowers blood acetate levels
EPI-743 increases antioxidants
Rapamycin reduces oxidative metabolism

61

Name the 3 stages of Leber syndrome and their symptoms

Pre-symptomatic: Pericapillary Telangiectasia Microangiopathy
Acute: Centrocecal scotoma, hyperaemia, optic swelling
Chronic: Increased acute symptoms

62

How do you diagnose LHON?

Blood test and eye examination.

63

What are the risk factors for ALL?

Radiation, benzene, genetic conditions, chemotherapy drugs, smoking, race, compromised immunity, viruses.

64

What are the symptoms of ALL?

Anaemia, blood clotting problems and serious infections
Increased abnormal lymphoblasts

65

What are the genetics of ALL?

Not inherited
Translocation, trisomy and aneuploidy
Linked to Down, Klinefelter, Bloom due to the abnormal chromosomes

66

What are the three phases of ALL treatment?

Remission induction
Consolidation/intensification
Maintenance

67

What are some treatment options for ALL?

Chemotherapy
Radiotherapy
Stem cell transplant
Targeted therapy