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Doe
Thu, Nov-18-04, 19:16
J Neurol Sci. 2004 Dec 15;227(1):27-33. Related
Articles, Links

Increased incidence of the Hfe mutation in amyotrophic lateral
sclerosis and related cellular consequences.

Wang XS, Lee S, Simmons Z, Boyer P, Scott K, Liu W, Connor J.

Department of Neurosurgery, Penn State College of Medicine,
Hershey, PA 17033, USA.

The etiology of amyotrophic lateral sclerosis (ALS) is
unknown. The presence of mutations in the superoxide dismutase
gene (SOD1) has led to theories regarding a role for oxidative
stress in the pathogenesis of this disease. A primary cause of
oxidative stress is perturbations in cellular iron
homeostasis. Cellular iron mismanagement and oxidative stress
are associated with a number of neurodegenerative diseases.
One mechanism by which cells fail to properly regulate their
iron status is through a mutation in the Hfe gene. Mutations
in the Hfe gene are associated with the iron overload disease,
hemochromatosis. In the current study, 31% of patients with
sporadic ALS carried a mutation in the Hfe gene, compared to
only 14% of patients without identifiable neuromuscular
disease, or with neuromuscular diseases other than ALS
(p<0.005). To determine the cellular consequences of carrying
an Hfe mutation, a human neuronal cell line was transfected
with genes carrying the Hfe mutation. The presence of the Hfe
mutation disrupted expression of tubulin and actin at the
protein levels potentially consistent with the disruption of
axonal transport seen in ALS and was also associated with a
decrease in CuZnSOD1 expression. These data provide compelling
evidence for a role for the Hfe mutation in etiopathogenesis
of ALS and warrant further investigation.

PMID: 15546588 [PubMed - as supplied by publisher]

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markd
Thu, Nov-18-04, 19:16
One mechanism by which cells fail to properly regulate their
iron status is through a mutation in the Hfe gene. Mutations
in the Hfe gene are associated with the iron overload disease,
hemochromatosis. In the current study, 31% of patients with
sporadic ALS carried a mutation in the Hfe gene, compared to
only 14% of patients without identifiable neuromuscular
disease, or with neuromuscular diseases other than ALS
(p<0.005).

Ah, another article under cutting the iron causes all disease,
these folk have a genetic disorder which causes too much iron
and not because they ate meat.