GENETIC MUTATION DATABASE
Minimum of 10
Genetic Mutation
Cystic Fibrosis
Effects on the
Nervous System
The study shows that
loss of CFTR protein
directly
alters
Schwann
cell
function and leads to
subtle
structural
abnormalities in the
myelin surrounding
the nerve fibers.
These abnormalities,
although
significantly milder,
resemble
myelin
defects
seen
in
known
human
neuropathies.
Effects on the
Endocrine System
Cystic fibrosis can
cause
multiple
endocrine disorders
including diabetes,
bone disease, short
stature, and male
hypogonadism. The
etiologies
are
multifactorial
but
may be directly
related in some cases
to CFTR dysfunction.
Effects on the
Reproductive System
In the reproductive
system, the thickened
secretions can cause
obstructions
and
affect
the
development
and
function of the sexual
organs. Most males
with
CF
have
obstruction of the
sperm canal known
as the congenital
bilateral absence of
the vas deferens
(CBAVD)
Illustration
Reference (APA Style)


Uiowa. (2015, March 19). Study suggests cystic fibrosis affects nervous system. Iowa Now. Retrieved February 28,
2022,
from
https://now.uiowa.edu/2013/02/study-suggests-cystic-fibrosis-affects-nervoussystem#:~:text=The%20study%20shows%20that%20loss,seen%20in%20known%20human%20neuropathies.