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molecular biology
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molecular biology
huntington desease
Whats huntington disease?
Huntington's disease is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington's disease has a wide impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.
What are the symptoms of Huntington’s disease?
HD is caused by mutations in the HTT gene
Physical symptoms include:
Uncontrolled movements like jerking
or twitching (chorea).
Loss of coordination (ataxia).
Trouble walking.
Difficulty swallowing (dysphagia).
Slurred speech.
How is Huntington’s disease
treated?
There’s no cure for Huntington’s disease. Huntington’s disease treatment focuses on helping you feel more comfortable. There isn’t treatment available to stop, slow or prevent symptoms.
Myotonic dystrophy
Whats myotonic dystrophy?
Myotonic dystrophy is a genetic condition that causes progressive muscle weakness and wasting.
Myotonic dystrophy can affect muscles of movement and often affects the electrical conduction system of the heart, breathing and swallowing muscles, bowels, lens of the eye and brain.
causes symptoms and treatment
DM Type 1 is caused by mutations in the DMPK gene on chromosome 19
DM Type 2 is caused by mutations in the CNBP gene on chromosome 3
In myotonic dystrophy, smaller muscles like those in the hands, face and jaw and muscles in the neck are usually affected first. Symptoms can appear anytime between birth and old age.
There’s no cure for myotonic dystrophy (DM).
Marfan syndrome
How to cure marfan syndrome?
Treatment usually includes medications to keep your blood pressure low to reduce the strain on your aorta. Regular monitoring to check for damage progression is vital. Many people with Marfan syndrome eventually require preventive surgery to repair the aorta.
symptoms and causes
Results from mutations in the FBN1 gene on chromosome 15
- Tall and slender build
- Disproportionately long arms, legs and fingers
- A breastbone that protrudes outward or dips inward
- A high, arched palate and crowded teeth
- Heart murmurs
- Extreme nearsightedness
- An abnormally curved spine
- Flat feet
Whats marfan syndrome?
Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.
Autosomal dominant disorder
ana jugashvili and anastasia potskhveria