Causes and Effects

Question 1

e.g. of genetic disease

Answer 1

CF
haemophila

Question 2

e.g. of disease caused by environ exp

Answer 2

melanoma

Question 3

e.g. nutritional disease

Answer 3

scurvy
obesity

Question 4

e.g. cancer

Answer 4

melanoma

Question 5

CF CAUSE

Answer 5

• inheriting 2 mutated CFTR genes (bc it’s recessive)
• most common mutation - delta f508 (deletion) -> frameshift mutation
• protein misfolded -> lack of CFTR protein on epithelial surface -> cannot pump out chloride ions, thus leaving thick secretions

Question 6

CF EFFECT

Answer 6

• cysts + fibrosis in pancreas
• decreased lung function (bc mucus buildup)
• coughing up 🩸 - respiratory failure
• digital clubbing, men infertility, nasal polyps, life expectancy shorter

Question 7

CF PREVENTION

Answer 7

Newborn screening → treatment starts earlier AND genetic screening of parents to determine the chances of having an offspring with CF

Question 8

CF TREATMENT

Answer 8

Replacement of pancreatic enzymes (bc they break down the pancreas): blocking the pancreas’ production of enzymes but giving someone tablets orally so they still get the enzyme

Inhalers

Chest physiotherapy - help patient cough up and loosen mucus from chest

Lung transplant - if the symptoms and damage becomes extreme

Question 9

melanoma (environmental + cancer) CAUSE

Answer 9

• UV exposure (☀light + tanning beds)
• UV radiation induces DNA damage, leading to the formation of DNA dimers, primarily pyrimidine dimers (e.g. thymine dimers)

Question 10

melanoma (environmental + cancer) EFFECT

Answer 10

• tumour growth and invasion of surrounding tissues
• formation of malignant melanocytes in the skin
• may cause pain, bleeding, and skin ulceration
• potential metastasis to other organs and lymph nodes

Question 11

melanoma (environmental + cancer) PREVENTION

Answer 11

• lim ☀ exp (esp peak hrs)
• sunscreen (SPF 30+) / protective clothing
• avoid tanning beds + artificial UV radiation sources

Question 12

melanoma (environmental + cancer) TREATMENT

Answer 12

• surgical excision -> remove localised melanomas
• immunotherapy to boost the immune system’s response e.g. using monoclonal antibodies
• chemotherapy

Question 13

obesity (nutritional disease) CAUSE

Answer 13

• overeating + poor dietary choices
• sedentary lifestyle
• lack of access to nutritious food
• genetics

Question 14

obesity EFFECT

Answer 14

• ^ risk of cardiovascular disease
• ^ risk of type 2 diabetes
• ^ risk of certain cancers
• reduced fertility + reproductive problems

Question 15

obesity TREATMENT

Answer 15

• dietary changes
• regular exercise
• prescription weight-loss drugs
• behaviour therapy

Question 16

OBESITY PREVENTION

Answer 16

• balanced diet + portion control
• avoiding late night eating
• regular physical activity

Question 17

genetic disease (general causes)

Answer 17

• cell division (by mitosis or meiosis) occurs abnormally resulting in cells with an incorrect number of chromosomes or abnormal chromosomes
• abnormal protein