Week 3 Flashcards
(32 cards)
Huntington disease Clinical Presentation
-Choreiform, Ataxia, Dysarthia
Huntington disease Pathogenesis
-Trinuclotide repeat in the coding region Exon-1 on 4p16.3, Autosomal dominate fashion
Fragile X Syndrome Clinical presentation
-Congnitive/ Development impairments, Large head, long face, prominent forehead and chin, protruding ears, macroorchidism
Fragile X Syndrome Pathogenesis
-Trinuclotide expansion in the Promoter Region, causing Hypermethylation and increased compaction of the Histones
Friedrich Ataxia Clinical Presentation
-Ataxia, Hypertrophic Cardiomyopathy, Dysmetria, Pes Cavus, Spinal cord disruptions/problems
Friedrich Ataxia Pathogenesis
- Expansion repeat in the Intron of the gene on Chromosome 9
- Autosomal recessive
Myotonic Dystrophy Clinical Presentation
-Slow Growth, Development delay, Myopathic face, Tenting of the upper lip, Myotonia, Cataracts
Myotonic Dystrophy Pathogenesis
- expansion repeat in Chromosome 19 [3’ UTR] or 3 [Intron], depending on if it is Type I/II,
- Repeat acts like a sponge tying up the machinery
Anencephaly Clinical Presentation
- Forebrain, vault of skull, skin are absent
- stillborn
- 2/3 female
Anencephaly Pathogenesis
-Defect in Anterior neural tube closer
Spinabifida Clinical presentation
-Meningomyeocele, protrusion of neural tissue out of the spine
Spinabifida Pathogenesis
- Is a problem with failure of fusion of the arches of the vertebrate
- is also related to [Folate]`
Qualitative Traits
Disease or not
Quanitative Traits
A measurable quantity
Discordance vs Concordance
Non-Genetic factors - Strong Genetic Factors
4 types of molecular therapeutics
1) Gene product Augmentation
2) Gene Replacement
3) Gene Correction
4) Gene Expression change
Gene Product Augmentation Goal
- To synthesize the protein externally and introduce it back into the body
- not a permanent solution*
Adenovirus Vector Treatment Advantages
Large payload, Can infect respiratory epithelia
Adenovirus Vector Treatment Disadvantages
High immune response, Not Stable
Lentiviral Vector Advantages
Stably integrated, independent expression, large payloads
Lentiviral Vector Disadvantages
Possible Oncogenesis, and insertional mutagenesis due to it “jumping” around.
SCIDS Pathogenesis
Defective Adenosine Deaminase causing build up of Deoxyadenosine which leads to conversation of S-Adenosylhomocystine (which kills B/T cells)
Prader-Willi syndrome Clinical presentation
-Hypotonia, Cryptochidism, Feeding poorly, Hypothalamic dysfunction, Obesity, Cognitive impairment, Short Stature
Prader-Willi syndrome Pathogenesis
Paternal Deletion on 15q11-13 while the mothers is Imprinted
