genetic disorders

what is huntington’s disease

a progressive brain disorder that affects the central area of the brain

what is affected if you have huntington’s disease

movement, mood, and thinking skills are affected as a consequence

what mutation is huntington’s disease

frameshift — addition mutation

what is the mutation that causes huntington’s disease

the mutation that causes hungtinton’s disease is a DNA segment of cytosine, adenine, and guanine that appear multiple times in a row. bases are the chemical building blocks that make up DNA

what is the difference between normal cells and for people with huntington’s disease

normally CAG segment is repeated 10-35 times within a gene. in people with huntington’s disease, the segment is repeated more than 120 times

what are the symptoms of huntington’s diesease

symptoms of huntington’s disease usually develop over time and affect movement, thinking and emotions. common symptoms include:

• uncontrollable jerking or twitching movements (called chorea)

• difficulty walking, speaking or swallowing

• poor coordination and balance

• memory and concentration problems

• personality and mood changes

• difficulty making decisions or learning new things

symptoms can gradually worsen as the disease progresses

what is changed with huntington’s disease (on a genetic level)

huntington’s disease is caused by too many repeats of the DNA sequence CAG in the HTT gene, which creates harmful protein that damages brain cells

what is cystic fibrosis

an inherited genetic disease that causes thick, sticky mucus to build up in the lungs and digestive system. this can lead to breathing problems, lung infections and difficulty digesting food

what causes cystic fibrosis

cystic fibrosis can be caused by a deletion of a single base or by the deletion of the whole codon on chromosome number 7, causing a frameshift

what are the symptoms of cystic fibrosis

common symptoms of cystic fibrosis include:

• persistent coughing and wheezing

• frequent lung infections

• difficulty breathing

• thick, sticky mucus

• poor growth or weight gain

• salty-tasting skin

• digestive problems and stomach pain

what is changed with cystic fibrosis (on a genetic level)

cystic fibrosis is caused by a mutation in the CFTR gene, which changes the instructions for making the CTFR protein. this causes the protein to work improperly or not at all, leading to thick, sticky mucus in the body

what is sickle cell anemia

an inherited blood disorder where red blood cells become hard, sticky, and shaped like a sickle (crescent moon). These abnormal cells can block blood flow and carry less oxygen around the body.

what causes sickle cell anemia

sickle cell anemia is caused by a mutation in the HBB gene, which affects the production of haemoglobin — the protein in red blood cells that carries oxygen. the mutation causes red blood cells to become sickle shaped instead of round.

what is changed with sickle cell anemia (on a genetic level)

for sickle cell anemia, a single base substitution in the HBB gene causes a missense mutation, meaning the codon changes so it codes for a different amino acid in the haemoglobin protein. this changes the shape of the red blood cells into a sickle cell shape.