Molecular Biology Flashcards
What do we know about Alzheimer’s disease?
- Causes neurons to die and brain to shrink
- Degeneration is worse in regions like the hippocampus, involved in learning and memory
- It has a characteristic neuropathology comprising plaques made of beta-amyloid
Beta-amyloid plaques in Alzheimer’s are made of a…
degradation product of a large protein called the amyloid precursor protein
Mutations in the amyloid precursor protein or in the enzymes that degrade it can lead to…
inherited, early-onset Alzheimer’s disease
Accumulation of beta amyloid can be detected in the brain using…
modern imaging techniques (non-invasive)
Name a risk factor for developing Alzheimer’s disease
ApoE4 allele of the ApoE gene
Alzheimer’s disrupts brain networks that are involved in…
cognition
Healthcare providers do not typically refer to basic cell and molecular biology to address routine clinical problems. However,…
they must understand enough to allow for collaboration, communication and translation of knowledge between the scientific research field and the clinical setting.
Basic biomedical research and collaborations that go from lab bench to bedside are essential to…
advances in clinical practice
Researchers often study rare diseases with known molecular causes to gain insight into…
more common idiopathic disorders
Inherited erythromyelalgia IE)
Rare, monogenic inherited disorder characterized by episodes of redness ad pain in the feet and hands. Often triggered by warmth or mild exercise.
IE is caused by a gain-of-function mutation in…
Nav1.7 sodium channel
IE mutations shift the voltage-dependence of channel activation to more … potentials making them…
more negative potentials making them easier to open (neurons become more excitable and start firing abnormally)
How can we use what we know about Nav1.7 channels clinically?
We could develop drugs that selectively inhibit Nav1.7 channels to treat pain.
Mutations in Nav1.7 that cause non-functional channels (loss-of-function) result in …
congenital insensitivity to pain
Monogenic disorders (disorders caused by a single mutation) are rare, but we can study them to gain insight into …
the molecular basis of more sporadic, common forms of the diseases
