Diseases b Flashcards
What is Cushing’s syndrome?
- Hypercortisolism bc of adrenal hyperplasia (too much ACTH)
- Symptoms: obesity, hypertension, osteoporosis and diabetes
What is Cushing’s disease?
- Caused by a pituitary tumor that overproduces ACTH
- Commonly men age 40-59
What is Androgen insensitivity syndrome?
- Due to a defect in androgen receptor
- Mutations of the androgen receptor gene
- XY patients develop testes and females external genitalia and vagina (no uterus)
- Abnormal male phenotypic development, no secondary sex characteristics. May look like woman.
- AR plays crucial role in post-meiotic perm production, so mutation may lead to infertility.
What is Kennedy’s disease?
- Spinal and Bulbar Muscular atrophy)
- Adult-onset neurodegenerative disease in males -Slow progressive muscle weakness and atrophy caused by the expansion of a CAG repeat in androgen receptor gene
What mutation is a major cause of prostate cancer?
-Androgen receptor has a central role in the normal growth/development of the prostate gland & carcinogenesis
What causes cholera?
- Cholera Toxin: covalently bonds & blocks the inactivation of GSα. Cannot hydrolyze GTP (on)
- Symptoms: massive diarrhea and dehydration (water flow from blood to intestine lumen)
What is pertussis?
- Whooping cough toxin modifies inhibitory complex Giα, which prevents the release of GDP (always OFF).
- Symptoms: respiratory tract is infected, and coughing can lead to vomiting and dehydration
- Treatment: antibiotics and hydration therapy
What is diabetes mellitus type 1?
-Autoimmune disease with destruction of insulin-secreting beta cells in the pancreas (decreased insulin secretion)
What is diabetes mellitus type 2?
- Insulin resistance, impaired signaling and action
- Primarily caused by obesity
- Resistance leads to more secretion, but it’s insufficient
- High levels of glucagon worsens hyperglycemia by increasing glucose production in the liver.
What is cardiac hypertrophy?
- Heart adaptive response to cardiac disease by increasing in cell size and up-regulating fetal cardiac genes
- Ater myocardial infarction, cardiac arrhythmia, -Treatment: inhibitors of Calcineurin (cyclosporin A, FK506)
What is hypertrophic cardiomyopathy?
-Sustained hypertrophy (normally in L-ventricle) -Can lead to myocellular disarray, increased fibrosis, dilated cardiomyopathy, heart failure, & death.
What is Familial hypertrophic cardiomyopathy?
- Leading cause of sudden cardiac death in young athletes often caused by mutations in contractile proteins in sarcomeres
- It is associated with increased intracellular Ca2+ released to maintain contractility, but this triggers a hypertrophic response of cardiomyocytes)
What are Neuro-cardio-facial-cutaneous syndromes (NCFC)?
- Developmental disorder due to germline mutations in Ras signaling cascade
- Symptoms: psychomotor delay, cardiac abnormalities, short stature, facial dysmorphism, skin defects, increased cancer risk.
- Similar mutations in: Neurofibromatosis Type 1, Noonan syndrome, Leopard syndrome, Costello syndrome.
What is Familial adenomatous polyposis (FAP)?
- Causes numerous polyps in the colon and rectum, which can progress to malignant forms
- Caused by APC mutations, which lead to β-catenin accumulation and abnormal gene transcription
What is GRTH syndrome?
- Dominant negative mutation in ligand binding domain that cause general resistance to thyroid hormone by inhibiting binding.
- High circulating levels of thyroid hormones
- Hearing defects, mental retardation, learning disabilities, emotional disturbance
