Special topics

What is cancer

Disease of proliferation

What does benign mean

Localized stays in one place

What is malignant

Invasive. Can become metastatic

Types of cancer

Carcinoma

• melanoma: from melanocytes

Sarcoma

• leukemia: abnormal white blood cells

How does cancer become metastatic

Cells grow as benign tumor, cell adhesion disrupted and cells become invasive.

Cells stick to blood vessel wall in new location.

Cells induce angiogenesis and continue to divide and form metastasis

What are the cancer critical genes

Oncogenes (bad)- mutated dominant genes cause cancer

Proto-onco genes (good): controlled cell division

Tumor suppressor genes: mutated recessive. Genes that are inactive. Suppress cell division

What are oncogenes

Bad. Mutated dominant genes that cause cancer

What are proto-onco genes

Good. Controlled cell division

What are tumor suppressor genes

mutated recessive genes that are inactive. Suppress cell division.

True or false cancer is difficult to treat

True cuz it’s not just one single disease

What are therapies for cancer

Chemo, radiation, surgery

How is cystic fibrosis caused

defect in CFTR gene (cystic fibrosis trans membrane regulator)

• autosomal recessive

How to characterize cystic fubrosis

Thick mucous

Salty sweat

What does cystic fibrosis damage

Lungs and digestive

Complications in cf

Respiratory cuz thick mucus blocks airways

What is adrenoleukodystrophy ALD

Can’t metabolize VLCFA (very long chain fatty acids)

• accumulates in brain and strips neurons of myelin

Why is myelin important

Vital for nerve transmission

What is ABCD1 gene

Encodes trans membrane protein which transports VLCFA into peroxisomes

What is osteopenia

Skeletal disorder. Osteoblast and ossification declines

How does osteoporosis happen

Estrogen level dropping, osteoclasts become overactive

Osteoporosis is when there is more what

More osteoclasts than osteoblasts

What’s achondroplasia aka dwarfism

Form of dwarfism and bone deformity

How is achondroplasia caused

FGF3R gene encodes fibroblast growth receptor

• affects interstitial growth

• Intramembraneous ossification not affected

Signs of dwarfism

• thin epiphyseal plate

• Few cells in proliferating cartilage

What’s osteogenesis imperfecta

Brittle bone disease

• mutation in alpha 1 and alpha 2 peptides of triple helix molecule of collagen 1

• Osteoblasts and fibroblasts don’t secrete collagen properly

What is a disorder in axial skeleton

Scoliosis

Kyphosis

Lordosis

What’s scoliosis

Lateral bending of vertebral column

• in Thorscic region

What is scoliosis formed by

Poor posture

What’s kyphosis

(Hump back)

Exaggeration of thoracic curve

• caused by rickets and poor posture

What’s lordosis

(arched bsck)

Exaggeration of lumbar curve

• Increased abdominal weight

Joints disorders

Osteoarthritis

Gout

Rheumatoid arthritis

What is lordosis formed by

Increased abdominal weight

What is kyphosis formed by

Rickets and poor posture

What is osteoarthritis

Degenerative form of arthritis

What are the forms of osteoarthritis

Primary: age related

Secondary: caused by another disease

What happens in osteoarthritis

cartilage degenerates

Joint pain and swelling

Cartilage inflammation will cause bone spurs to form around joints which will hit nerves

What is gout

Secondary type of osteoarthritis

• caused by uric acid overload

What causes gout

Uric acid overload

• Urate crystals forming tissues and joints

What gene causes gout

uric acid carrier protein gene

What is rheumatoid arthritis

Autoimmune disease causing JOINT inflammation/degeneration of joints

What is the CA use of rheumatoid arthritis

UNKNOWN but might involve genes that govern immunity (traf1 and c5 genes )

Other than joints, what else does rheumatoid arthritis affect

Other organs. Systemic disease. Makes ur fingers look funky

What disorders have to do with muscles

Duchenne muscular dystrophy

Myasthenia Gravis

Do skeletal muscles become smaller or larger as we age?

Smaller

Why do skeletal muscles get smaller as we age

Decrease in # of myofibrils

Less myoglobin and glycogen reserves

True or false: skeletal muscles become less elastic as we age

True

When skeletal muscles become less elastic, what does it cause

Fibrosis

What is duchenne muscular dystrophy

Weakening of muscles

• x linked recessive

• Affects dystrophin protein

which group does duchenne muscular dystrophy affect

Boys

When do symptoms appear in duchenne muscular dystrophy and what’s the life expectancy

Appear at age 5. Life expectancy 26

What complications are associated with cystic fibrosis

Respiratory (chronic respiratory infections)

• pneumonia

• Bronchitis

nutritional complications

• chronic diarhea

• Malnutrition

What is myasthenia Gravis

antibodies block nicotinic cholinergic receptors on skeletal muscle

• destroys through endocytosis

• Prevents nerve impulses from triggering muscle contractions

What are symptoms of myasthenia graves disorder

Muscle weakness

How to treat myasthenia graves disorder

AChE and immunosuppressants

What are peroxisomes important for in cf

Detoxification

What does peroxisomes produce

Hydrogen peroxide turned into h2o

What does adrenoleukodystrophy damage

White matter of brain and impairs adrenal glands

What’s Marfan syndrome

Autosomal dominant CT disorder

What gene does Marfan syndrome affect

FBN1 gene

• necessary for development of mature elastic fibers

Symptoms of Marfan syndrome

Slender build

Long limbs and fingers

Heart problems

What is ehlers danlos syndrome

13 CT disorders that affect collagen production

What type of ehlers danlos syndrome is most common

Hypermobile EDS

Symptoms of ehlers danlos

Stretchy skin

What is Cutis laxa

RARE disorder that affects skin’s elasticity

mutations in what genes cause cutus laxa

FBLN4 & FBLN5 genes

Symptoms of cutus laxa

Deficiency of elastin fibers

Mutations in what genes for Osteogenic imperfects

Alpha 1 and 2 peptides

What happened to people who have Osteogenic imperfecta

Osteoblasts and fibroblasts can’t secrete collagen properly

Water content in cartilage osteoaritis ____, protein content ___

Increases, decreases