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Sickle cell disease

Caused by a genetic mutatuon in the HBB gene

Most common: mutation in the beta-globin gene

Single nucleotide substitution from A to T in the codon for amino acid 6

Converts glutonic acid codon (GAG) to valine codon (GTG)

At least 1 of the beta-globin subunits in hemoglobin is replaced with haemoglobin S (HbS)

Causes

Inherited in an autosomal recessive pattern

Parents carry one copy of the mutated gene,but typically do not show signs and symptoms of the condition

1 in 500 African Americans, 1 in 1000-1400 Hispanic Americans

Effects

Sickle cells tangle together and block blood vessels throughout the body

Pain

Sever health consequences such as clotting in the blood vessels in the brain, heart and lungs

Low number of RBC (anemia)

Shortness of breath

Fatigue

Delay growth and development in children

Repeated infections

Periodic episodes of pain

Yellowing of skin and eyes from break down of RBC

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What is the mutation
— trisomy 21 (extra copy of chromosome 21)
Causes
— most scenarios: extra chromosome 21 in each cell
—some: extra chromosome 21 attached to other chromosome
—> both ways: disrupt process in which information in genes is decoded, modifying cellular function

Effects
— mild to moderate intellectual disability
— characteristic facual appearance
— weak muscle tone
— increased risk of other diseases and development disorders such as Alzheimers

Other Interesting Pattern
— older woman == higher chance
— actually not very rare: 1 in 800 newborns
— possible to inherit from parents who both do not have genetic history of disorder

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What is cystic fibrosis?
Caused by the dysfunctional CFTR gene that encodes CFTR protein.

Causes
The condition is also caused by other genetic and environmental factors which are likely to influence the severity of the condition, mutations in genes other than the CFTR gene also affect the severity of condition.

Effects/Symptoms
Some signs and symptoms of this condition is that the build up of sticky and thick mucus also cause progressive damage to respiratory system and chronic digestive problems. the abnormal production of mucus can clog up the airway, leading to severe problems with breathing and bacterial infections in lungs, as well as chronic coughing, wheezing and inflammation. there may be digestive problems such as malnutrition, poor growth and weight loss. men with CF have congenital bilateral absence of vas deferens, in which tubes that carry sperm are blocked by mucus and are hence infertile.

Other interesting info
CF patients have a life expectancy of around 40 years.
It is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations. parents of an individual with autosomal recessive each carry one copy of the mutated gene, but they may not show signs and symptoms of the condition.

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Causes
• Mutation in Huntigtin (HTT) [Random]
-extra DNA (12x)
-longer Huntingtin protein
-cut into smaller toxic fragments that bind together
-block nerve signals

Effects
•Brain disorder
•Adult onset (30-40)
-uncontrolled movement
-emotional problems
>depression
>irritability
-loss of thinking ability
>trouble learning
> poor coordination
-death after 15-20 years

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What is the mutation?
- Genetic mutation of FGFR3 gene causes Achondroplasia
- Causes mainly dwarfism and short limbs.

Causes
- Cannot convert cartilage into bones due to the mutation
- Autosomal dominant, only 1 dominant allele is needed to cause the disorder
- Overstimulates the receptor FGFR3, preventing cells from maturing and impedes bone formation

Effects
- Short height (about 1.3m to 1.5m - on average, males 131cm, females 124cm)
- Short limbs and fingers
- Breathing slows down
- Fluid buildup in brain
- Walking difficulty
- Trident hands
- Enlarged head
- Prominent forehead

Other interesting information
- Commonly caused by overexpression of bone growth factors
- Autosomal dominant disorder - 80% of patients have normal-sized parents

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1) What is the mutation?
Genetic mutation in SMN1, UBA1, DYNC1H1 and/or VAPB genes

2) Causes
Mutation in SMN1 genes.

1. causes a shortage of SMN proteins

2. motor neurons die

3. nerve impulses cannot be passed from brain to muscle

4. leads to impaired movement and weakness

3) Symptoms

mild-moderate muscle weakness

impaired movement

twitching

mild breathing problems

4) Interesting information

autosomal recessive patterns

both parents need to be carriers

drug to treat SMA available

$125K per dosage

3 dosages per year, 6 for first year

temporarily enables patients to make more survival motor neuron (SMN) proteins

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Pompeii disease is an inherited disorder caused by the buildup of glycogen in the body's cells as mutations in ths GAA gene prevents acid maltase from breaking glycogen down, which allows this sugar to build up to toxic levels in lysosomes. Thks damages organs and tissues.

Effects : enlarged organs / heart defects / breathing problems / delayed motor skills in children / progressive muscle weakness /

Other info - inherited in an autosomal recessive pattern

Frequency - affects 1 in 40k ppl in USA

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1) Degenerative disease of the brain
-causes dementia, gradual lossof memory, judgement and function
-household activities become challenging
-require help in dressing, eating
-personality disorders and behavioural changes
- DEATH - pneumonia, malnutrition, general body function

2) Cause
-proteins build up in brain to form plagues and tangles
-nerve connections are lost, cells die and brain tissues volume reduced
-people with alzheimers don't have microgilia in the brain
-microgilia is responsible for the clearing of damaged cells and proteins

3) Symptoms
- difficulties with language and shrinking vocab
- changes in behaviour, lack of inhibition, no social skills
- problems with finding their way home

4) Inheritance patterns
- formed from mutations in the genes of APP, PESN1, PSEN2
- when these genes are altered, toxic protein called amyloid beta peptide is formed in the brian, building up amyloid plaque
- people with down syndrome have increased risk of developing alzeihmers
-inherited in an autosomal dominant pattern
Leah

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1) What is the mutation?
Chromosomal condition also known as Patau syndrome.

2) Causes
3 X Chromosome 13 in each cell instead of usual 2X. Extra generic materials disrupts normal cause of development.

3) Effects
Severe intellectual disabilities / physical anomalies / heart defects / spinal cord abnormalities / microphthalmia / cleft lip / extra fingers or toes
- Severe life threatening medical conditions- most infants don't live past 1 year.

4) Interesting stuff
Mostly random. Not inherited. Except for translocation trisomy 13 which may be inherited and passed down
Despite the child being disabled with low life expectancy, most parents of such children lead a happy and fulfilling life and ensure the child has a high quality of life.