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A suppressor screen is used to identify suppressor mutations that alleviate or revert the phenotype of the original mutation, in a process defined as synthetic viability. [13] Suppressor mutations can be described as second mutations at a site on the chromosome distinct from the mutation under study, which suppress the phenotype of the original ...
LATE is a term that describes a prevalent medical condition with impaired memory and thinking in advanced age, often culminating in the dementia clinical syndrome. [1] In other words, the symptoms of LATE are similar to those of Alzheimer's disease. The acronym LATE stands for Limbic-predominant Age-related TDP-43 Encephalopathy.
Early onset familial Alzheimer's disease can be attributed to mutations in one of three genes: those encoding amyloid-beta precursor protein (APP) and presenilins PSEN1 and PSEN2. [40] Most mutations in the APP and presenilin genes increase the production of a small protein called amyloid beta (Aβ)42, which is the main component of amyloid ...
Chromosomal rearrangements, microdeletions, and large-scale translocations have been associated with impaired neurological and cognitive function, for example in hereditary neuropathy and neurofibromatosis. Optical mapping can significantly improve variant detection and inform gene interaction network models for the diseased state in ...
The patient demonstrated an average full-scale IQ result. This is notable because previously reported patients with chromosome 3q29 terminal deletion had intellectual disabilities. This report further expands the phenotypic spectrum to include the possibility of normal intelligence as corroborated by formal, longitudinal psycho-educational testing.
Two mechanisms have been proposed for large scale repeats: template switching and break-induced replication. [27] Template switching, a mechanism for large scale GAA repeats that can double the number of triplet repeats, has been proposed. [27] GAA repeats expand when their repeat length is greater than the Okazaki fragment's length. [27]
Signs and symptoms are classified into three groups based on the affected functions of the frontal and temporal lobes: [8] These are behavioural variant frontotemporal dementia, semantic dementia, and progressive nonfluent aphasia. An overlap between symptoms can occur as the disease progresses and spreads through the brain regions. [14]
The symptoms of this dementia depend on where in the brain the strokes occurred and whether the blood vessels affected were large or small. [13] Repeated injury can cause progressive dementia over time, while a single injury located in an area critical for cognition such as the hippocampus, or thalamus, can lead to sudden cognitive decline. [69]