Diseases for Ex 1

Question 1

Ehlers Danlos Syndrome

Answer 1

• autosomal dominant connective tissue disorder caused by abnormal production of collagen due to mutations in the genes that encode for collagen
• joint hypermobility, skin hyperelasticity, tissue fragility

Question 2

Immotile Cilia Syndrome

Answer 2

• autosomal recessive gene causes defects in whichever polypeptide species within the axoneme of the cilia
• persistent lung and sinus infections, infertility

Question 3

Gaucher’s Disease

Answer 3

• autosomal recessive
• deficiency in the eznyme glucocerebrosidase that breaks down glucocerebroside
• Enlarged spleen and liver, Eye movement disorders, Yellow spots in the eyes, anemia, fatigue, bruising, lung problems, seizures

Question 4

Metaplasia

Answer 4

• replacement of one mature cell type with a different type that does not belong there
• Intestinal metaplasia: non-keratinized squamous epithelium -> non-ciliated columnar epithelium, asymptomatic, but will have symptoms from the cause of this change in tissue
• Squamous metaplasia: non-squamous epithelium -> squamous epithelium, inflammation, fibrosis, ulceration

Question 5

Tay Sachs

Answer 5

• autosomal recessive disease resulting in a mutation in chromosome 15
• lipid glanglioside builds up, causing death of neurons
• decreased muscle tone, losing previously learned skills, visual difficulties, seizures

Question 6

Xeroderma Pigmentosum

Answer 6

• autosomal recessive condition affecting any surface of the body exposed to the sun
• mutations to nucleotide excision repair mechanism in fibroblasts leading to a buildup of unrepaired DNA w/n cells
• severe sunburns, extensive freckling, hyperpigmented/hypopigmented macules, some tumors

Question 7

Marfan Syndrome

Answer 7

• autosomal dominant CT disorder that weakens the support that CT provides throughout the body
• deficit in the fibrillin-1 (FBN1) gene
• tall/slender, irregularly long appendages, protruding/intruding breastbone, crowded teeth, heart complications, flat feet

Question 8

Rheumatoid arthritis

Answer 8

• autoimmune disease that affects a person’s joints, causing pain and swelling
• body attacks the hyaline cartilage, causing chronic pain in areas like the hand, wrists, knees

Question 9

Osteoarthritis

Answer 9

• decrease in bone mineral density and bone mass causes bones to become weak and brittle
• imbalance of bone remodeling, osteoclasts working faster than osteoblasts
• no usual symptoms, fractures are common