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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.
Behavioural mutations play a detrimental part towards the genomes of many species, however, they can greatly affect the outcome of mating; affecting the success of fitness, how many offspring will arise and the likelihood that the male will actually procreate.
One cause of cerebral folate deficiency is due to a genetic mutation in the FOLR1 gene. It is inherited in an autosomal recessive manner. [2] The mutation of the FOLR1 gene causes an inability to produce the FRA protein. [12] More commonly, CFD involves the malfunction and disruption of the folate receptor alpha (FRA). One way the FRA can be ...
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 ...
MELAS is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). In most cases, the signs and symptoms of this disorder appear in childhood following a period of normal development. [4]
Because glucose is the primary source of fuel for the brain, patients with GLUT1 deficiency have insufficient cellular energy to permit normal brain growth and function. [ 8 ] Around 90% of cases of GLUT1 deficiency syndrome are de novo mutations of the SLC2A1 gene (a mutation not present in the parents, but present in one of the two copies of ...
The discovery that trinucleotide repeats could expand during intergenerational transmission and could cause disease was the first evidence that not all disease-causing mutations are stably transmitted from parent to offspring. [1] Trinucleotide repeat disorders and the related microsatellite repeat disorders affect about 1 in 3,000 people ...
Learning disability, learning disorder, or learning difficulty (British English) is a condition in the brain that causes difficulties comprehending or processing information and can be caused by several different factors. Given the "difficulty learning in a typical manner", this does not exclude the ability to learn in a different manner.