An understanding of science in this the 21st century is an essential ingredient for leading a productive and rewarding life.
Saturday, May 26, 2018
Impact of the Changing Climate on Rio Grande
The current state of the Rio Grande as reported in the New York Times
Friday, May 11, 2018
The FOXG1 Syndrome
The so-called “FOXG1 Syndrome,” is a rare birth defect in
which the infant who presents with this condition is abnormally small at birth
and during the early stage of neuronal development, the head grows slowly; this
eventually leads to an unusually small head in early childhood – a condition
referred to as microcephaly. Upon close
examination there are number of brain anomalies that are present in patients
with this condition –
- thin or underdeveloped corpus collosum that connects the left and right hemispheres of the brain
- reduction in the number of anatomical folds (gyri) that are present on the brain’s surface
- reduced amount of white matter in the brain. White matter is composed of the Axon bodies of the neurons (see diagram below) that connect the cell bodies of the neurons that make up the so-called grey matter.
Structure of the Human Neuron
On account of the profound anomalies in brain structure
associated with this syndrome, affected individuals present with severe and
wide-ranging intellectual disabilities.
These can include involuntary muscular movements, difficulties walking,
sleep disturbances, seizures and general irritability. In addition, abilities in speech and language
are often seriously impaired adversely affecting social interactions. The FOXG1 syndrome has been grouped as an
autistic-like disorder. Although the
range of impairments evident closely mirrors that of Rett syndrome, it is now
classified as a distinct disease.
In terms of the etiology the FOXG1 syndrome, it is believed
to be caused by a mutation in the FOXG1 gene.
The normal gene encodes for a the Forkhead Box G1 protein (see diagram
below). this protein seems to play an
essential role in brain development where it functions as a transcription
factor that normally represses the activity of certain genes when they are not required. Extensive research has demonstrated that the
FOXG1 gene product is involved in the development of the brain in early embryonic
life. The particular site of action of
this transcription factor is the telencephalon that ultimately develops into
the cerebrum that is involved in so many critical high-order functions in the
human brain including language, sensory perception, learning and memory.
Artistic Rendering of the Forkhead Box G1 Protein
Finally, Rett syndrome is also believed to be caused by a different
mutation in the FOXG1 gene leading to a dysfunctional Forkhead Box G1 protein. Since the origin of these diseases are
genetic in origin and impose their deleterious effects during embryonic
development, a cure may ultimately reside in the introduction of the normal
FOXG1 gene in utero. This may indeed
become a reality at some future time.
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