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A woman with
a rare genetic mutation that almost always results in early onset
Alzheimer's disease has given birth to a child who, thanks to
a new screening technique, does not carry the gene mutation, according
to researchers at the Reproductive Genetics Institute in Chicago.
The mother
carries the genetic mutation V717L, which is linked to a form
of Alzheimer's disease that manifests itself in people as young
as mid to late 30s. Two of the mother's siblings also carry the
mutation. One of them developed Alzheimer's at age 38 and is now
in an assisted living facility.
The mother
underwent in vitro fertilization to become pregnant. Before implantation,
the embryos used for the procedure were screened for the mutation
and only embryos free from the genetic defect were implanted.
The screening
technique, called preimplantation genetic diagnosis (PGD), has
been used to detect other conditions such as Tay-Sachs and sickle-cell
anemia, but this was the first use of the procedure to keep a
child from being born with early onset Alzheimer's disease.
Some experts
are questioning the ethics of the procedure, especially since
the baby's mother, age 30, is likely to develop Alzheimer's disease
while her child is still young. The mother, a geneticist, is currently
pregnant again, having undergone another round of PGD.
The early
onset gene is very rare, occurring in only about a dozen families
worldwide. The affected carriers are almost guaranteed to develop
early onset Alzheimer's disease.
Other
sources: Journal of the American Medical Association, AP
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