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Human karyogram. Neurogenetics studies the role of genetics in the development and function of the nervous system.It considers neural characteristics as phenotypes (i.e. manifestations, measurable or not, of the genetic make-up of an individual), and is mainly based on the observation that the nervous systems of individuals, even of those belonging to the same species, may not be identical.
Huntington's disease (HD) is a rare autosomal dominant neurodegenerative disorder caused by mutations in the huntingtin gene (HTT). HD is characterized by loss of medium spiny neurons and astrogliosis. [30] [31] [32] The first brain region to be substantially affected is the striatum, followed by degeneration of the frontal and temporal ...
Environmental enrichment affects cognition and intellectual development from a neurobiological perspective. More stimulating environments can increase the number of synapses in the brain which increases synaptic activity. In humans this is most likely to occur during the development of the brain but can also occur in adults.
This is universal in most organisms and affects multiple tissues. [11] In the hematopoietic compartment mutations include both large structural chromosomal alterations and point mutations affecting cancer-associated genes. Some translocations appear to occur very early in life.
This is an example of how disease can affect human variation. Another disease that can affect human variation is syphilis, a sexual transmitted disease. Syphilis does not affect human variation until the middle stage of the disease. It then starts to grow rashes all over the body, affecting people's human variation.
mutations in ERCC4 cause symptoms of accelerated aging that affect the neurologic, hepatobiliary, musculoskeletal, and hematopoietic systems, and cause an old, wizened appearance, loss of subcutaneous fat, liver dysfunction, vision and hearing loss, renal insufficiency, muscle wasting, osteopenia, kyphosis and cerebral atrophy [74]
In MDDS associated with mutations in RRM2B that primarily affect the brain and muscle, there is again hypotonia in the first months, symptoms of lactic acidosis like nausea, vomiting, and rapid deep breathing, failure to thrive including the head remaining small, delay or regression in moving, and hearing loss. Many body systems are affected.
Small-scale mutations affect a gene in one or a few nucleotides. (If only a single nucleotide is affected, they are called point mutations.) Small-scale mutations include: Insertions add one or more extra nucleotides into the DNA. They are usually caused by transposable elements, or errors during replication of repeating elements.