Not exact matches
A recent study published in Annals of Neurology reports that healthy
human tissue grafted to the brains of patients with Huntington's disease in the hopes of treating the neurological
disorder also developed signs of the illness,
several years after the graft.
In the new study, the researchers discovered that during the second trimester of
human brain development, oRG cells express genes related to a fundamental signaling pathway called mTOR, defects in which have previously been implicated in autism and
several other psychiatric
disorders.
The test tube finding, reported in the current Cell, could help explain the formation of prions — the tangled proteins that are implicated in mad cow disease and
several human brain
disorders — and eventually may lead to a way to smooth out these rogue proteins.
But a comparison of its DNA to that of another
human has revealed
several mutations in genes involved in bone
disorders — and confirmed once and for all that this being is definitely from our world.
Aneuploidy is known to be deleterious and underlies
several common
human diseases, including cancer and genetic
disorders such as trisomy 21 in Down's syndrome.
The presence of
several mutations in four important genes for the brain's synapses can be associated to Obsessive Compulsive
Disorder in
humans.
The authors were able to correct mutations in
several well - characterized genetic
disorders, including: Duchenne Muscular Dystrophy, Achondroplasia, and MECP2 - duplication syndrome using cells derived from
human patients.
Human mutations affecting this subgroup of ADAMTS / ADAMTSL proteins phenocopy all or
several aspects of genetic
disorders caused by mutations in the fibrillin - 1 gene itself, suggesting a functional relationship.
The prerequisite genetic basis for susceptibility to this
disorder has been in established in
humans, dogs and
several other species.
The
disorder is seen in
several canine breeds and other species including
humans.