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CELL RESPONSE TO INJURY: ENDOGENOUS CAUSES - Coggle Diagram
CELL RESPONSE TO INJURY: ENDOGENOUS CAUSES
GENES AND THE ENVIRONMENT
SCHIZOPHRENIA
breakdown in relationship between thought, emotion and behaviour =>
20-70% in monozygotic (identical; with identical DNA) twins
mutations in DISC1, dysbindin, neuregulin
rubella, grief, CNS damage increases risk of developing schizophrenia
NEOPLASIA
new and abnormal growth of tissue - rapid division of cells after a mutation
familial adenomatous polyposis of the colon
benign or cancerous polyps in the colon and rectum
mutations in APC or MUTYH genes
diet and lifestyle influences disease
BREAST CANCER
lifetime risk
1:8 (women), 1:868 (men)
5-10% breast cancers are inherited
BRCA1 and BRCA2
mutations in
BR
east
CA
ncer gene
family history of breast/ovarian cancer increases risk of development
MAJOR HISTOCOMPATIBILITY COMPLEX MHC
MHC = set of genes encoding cell surface molecules that determine histocompatibility
present pathogen peptides fragments for T cells
recognition of self
HLA genes highly polymorphic
~1500 genes
following transplant, immunosuppressants are taken
donor HLA on cell surface elicits immune response in recipient
MHC - ankylosing spondilitis
spinal arthritis primarily affecting young males, causing anykylosis of vertebral and sacroiliac joints
arthritic fusion of sacroiliac and vertebral joints
ossification (bone formation) of spinal ligaments leading spinal rigidity
HLA-B27 variant
95% of AS patients
9% of general population
only 1:15 HLA-B27 +ve people develop AS
MHC - multiple sclerosis
progressive disease of the spinal cord and brain
patches of demyelination (immune system attacks myelin sheath)
loss of nerve conductance and muscle control
leads to paralysis and death
HLA-DW2 variant
having this variant makes you 5x more likely to develop MS
influenced by viruses, location, vitamins, smoking
2% chance of passing to offspring
GENETIC DISORDERS
MAJOR CHROMOSOMAL ABNORMALITIES
VISIBLE CHANGES IN CHROMOSOMES THAT YOU CAN SEE UNDER A MICROSCOPE
TURNER SYNDROME
common; 1:2000 female births
random genetic event occurring at conception
not inherited
characteristic features
SHORT STATURE
UNDERDEVELOPED OVARIES
wont develop secondary sexual characteristics (breasts, pubic hair)
it is incurable
treatment with growth hormone, HRT (Hormone Replacement Therapy), IVF
hormones taken can lead to fertility problems
45 chromosomes (1 less)
DOWN SYNDROME
47 chromosomes (3 copies at chromosome 21)
1:1000 births
Random genetic event occurring at conception
OFFSPRING 50% CHANCE OF HAVING IT
mother's advancing age has significant influence
characteristic features
SLANTED EYES
STUBBY FACIAL FEATURES E.G NOSE
REDUCED MUSCLE TONE
THEY HAVE SPECIFIC LEARNING DIFFICULTIES
INCURABLE DISEASE
TREATMENT BASED ON SOCIAL CARE AND SUPPORT
NEOPLASTIC CELLS
`
RAPID DIVISION OF CELLS THAT HAVE ACQUIRED A MUTATION
HAVE INCREASED NUMBER OF CHROMOSOMES
BASAL CELL CARCINOMA
SKIN CANCER
ORIGINATES FROM BASAL LAYER OF EPIDERMIS
WHERE KERATINOCYTES ARE
TISSUE
LARGE DEFORMED NUCLEI TAKING UP SPACE IN CELL
ANTIBODY DIRECTED SPECIFICALLY TO CHROMOSOME 1
THE NUCLEI HAVE MULTIPLE COPIES OF CHROMOSOME 1
EXPOSURE TO UV RADIATION ESPECIALLY WITH LIGHT SKIN PHENOTYPE LEADS TO INCREASED RISK OF SKIN CANCER
MINOR CHROMOSOMAL ABNORMALITIES
ARE INVISIBLE WITH SINGLE GENE DEFECTS