Genetic Basis Of Disease Flashcards
What is Cystic Fibrosis (CF)?
A genetic disease that makes mucus way too thick, causing lung and digestion problems.
What type of genetic disorder is CF?
Autosomal recessive (both parents have to pass down a faulty gene—so unlucky! 😩).
What gene is responsible for CF?
The CFTR gene (found on chromosome 7q31).
Why is CF such a big deal?
It’s the most common lethal inherited disease in Caucasians.
How does CF affect the lungs?
Thick mucus blocks airways, making it hard to breathe and easy to get infections (bacteria love sticky places 🦠).
How does CF mess with digestion?
The pancreas gets clogged, so the body can’t absorb nutrients properly → weight loss, vitamin deficiencies, tummy issues.
How do doctors check for CF?
All newborns in the U.S. are screened (we’re catching CF before it even starts drama!).
What are the main treatments for CF?
1️⃣ Pancreatic enzymes (so food actually gets digested). 2️⃣ Bronchodilators (opens airways = easier breathing). 3️⃣ Mucolytics (breaks up mucus = less coughing). 4️⃣ Nutritional supplements (keeps weight up).
What is the #1 cause of death in CF?
End-stage lung disease (lungs just give up after years of fighting mucus 😞).
What is a lysosomal storage disease?
When cells’ trash collectors (lysosomes) stop working, so garbage builds up inside cells—eww!
How many lysosomal storage diseases exist?
Over 50 types—so many ways for cells to be messy.
What is Tay-Sachs Disease?
A brain disease in babies where their nerve cells get clogged with fatty junk 😢.
What enzyme is missing in Tay-Sachs?
Hexosaminidase A (found on chromosome 15).
What builds up in Tay-Sachs?
Gangliosides (a fatty substance that should NOT be in brain cells).
What are the symptoms of Tay-Sachs?
• Baby looks normal at first but then starts losing motor skills 🍼➡️❌ • Muscle weakness • Vision & hearing loss • Seizures • A “cherry-red spot” in the eye 🍒
What’s the sad truth about Tay-Sachs?
Babies don’t usually live past age 3 💔.
What is Down Syndrome?
A genetic condition where there’s an extra chromosome 21.
What type of genetic disorder is it?
Trisomy 21 (instead of 2 copies of chromosome 21, people with Down Syndrome have 3).
How does Down Syndrome affect learning?
Most people have an IQ between 25-50, so learning takes longer, but every person is different!
What are common facial features of Down Syndrome?
• Flat face • Small nose • Slanted eyes (epicanthic folds)
Is Down Syndrome the same for everyone?
Nope! Some people have mild symptoms, others have more challenges.
What is Huntington’s Disease (HD)?
A brain disease that messes up movement, thinking, and emotions—and it gets worse over time 😬.
What type of genetic disorder is HD?
Autosomal dominant (If one parent has it, the child has a 50% chance of getting it—yikes).
What gene is affected in HD?
The HTT gene (Huntingtin protein).
What mutation causes HD?
Too many “CAG” repeats in the HTT gene (the gene gets spammed with CAG, and the brain can’t handle it).
When do symptoms of HD start?
Usually between ages 35-44 (like a mid-life crisis, but much worse 😢).
What are the 3 biggest problems in HD?
1️⃣ Movement disorder (random dance-like flailing = “chorea” 💃). 2️⃣ Cognitive disorder (thinking and memory problems). 3️⃣ Behavior disorder (mood swings, aggression, depression).
Is there a cure for Huntington’s Disease?
No cure exists 😭 (but treatments can help manage symptoms).
What treatments help with HD symptoms?
• Antidepressants (for mood issues). • Antipsychotics (for behavior problems). • Anticonvulsants (for movement control).
