E3: Jenney Flashcards
(41 cards)
Which neuropsychiatric disorders have the highest annual cost?
- Addictions
- Alzheimer and dementias
- Pain (with migraine)
- Head and spinal cord injuries
- Anxiety disorders
What is the overall heritability of head/SC injuries vs. Hungtington’s?
0.05 vs. 1.00
overall heritability of all neuropsych disorders is 0.39
What is dystonia?
Neurological movement disorder, sustained/repetitive twitching, muscle contraction, posture
T/F: Mutations have to be in protein-coding regions of genome to exert effects.
False
What are some examples of genetic mutations?
Single base changes, deletions, or insertions
Instability (expansion/shrinkage of long repeat regions)
Deletions, duplications, inversions, exchanges of large regions of chromosomes
What is Mendelian inheritance?
Monogenic traits (phenotypes) which obey the laws of segregation and independent assortment
How can Mendelian inheritance patterns be modified?
Newly arising mutations
Mosaicism
Somatic mutations
Epigenetic effects
What is non-Mendelian inheritance?
Changes in DNA methylation patterns regulating gene expression with ‘parent-of-origin’ effects
Changes in covalent modifications of histones
Mitochondrial inheritance
Uniparental disomy
What are some ways to determine the role of genetics in neuropsych disorders?
Family history Twin studies Case-control studies / candidate gene association studies Sibling pair analyses Complex segregation analyses Molecular techniques Neuroimaging
How can family history help determine the role of genetics?
Used for simple Mendelian (single gene) traits
What are complex segregation analyses used for?
To study familial aggregation of disease looking for linkage (essentially family history with clinical and/or molecular aspects)
What are some problems in measuring how the genotype maps to a phenotype?
Incomplete penetrance Multi-gene phenotypes Epistasis Epigenetic effects Spontaneous mutations
What are motor neuron diseases?
Progressive degenerative diseases in which death of the cell bodies of motor neurons is the primary process
What are spinal muscular atrophies?
A group of autosomal-recessive disorders characterized by progressive degeneration of the lower motor neurons and muscle weakness
What causes SMAs?
Progressive loss of anterior horn cells
What is the most common disease of motor neurons in newborns?
Spinal muscular atrophies
What is the most frequent genetic cause of death in infants and toddlers?
Gene SMN mutations
Gene SMN: Siblings of an affected _____ have the same risks as any autosomal recessive disorder.
proband
Wtf is a proband?
A person serving as the starting point for the genetic study of a family (used especially in medicine and psychiatry).
What is a potential treatment for SMN mutations?
It has been shown that inhibitors of histone deacetylases such as phenylbutyrate and valproic acid promote acetylation of histones, increasing expression levels of full-length SMN protein.
What is a key point in SMN diseases?
While disease first manifests as death of anterior horn neurons, it affects many other cell types.
Recent data shows what drug is effective for treating SMA?
Nusinersen
Yes, you will be injecting patients with ______.
siRNAs
Which disease is strongly correlated with oxidative stress?
Parkinson’s
