As a biochemical engineer and mother of a son who died of Alpers' disease
(neurodegenerative disease of childhood, spongiform encephalopathy) at the
age of 16 months, I'm looking for more information about this disease.
With our son it wasn't a defect in the mitochondrial DNA, nor were there
liver-abnormalities seen at autopsy.
I have been searching for about one year now. I searched in Medline and
visited the website of NORD and many others, but my search has come up with
very little practical information. As whe will have one chance out of four
(one says) with a next pregnancy, it is very hard to decide to without any
possibility of prenatal diagnosis.
Is there anyone out there who thinks of Alpers' disease as a fatal
deregulation of natural (neuronal) cell death (so called apoptosis)? What
is the chance that there would be for instance a mutation in the Bcl-2 or
Bcl-X-genes (see review article of D.E. Merry and S.J. Korsmeyer in Annu.
Rev. Neurosci., 1997, 20:245-67)?
I also red the article of E.E.Manuelidis et al. (Neurology, 1989,
39:615-21) who induced a spongiform encephalopathy in hamsters upon
infection with brain-tissue from a 2,5 year old Alpers' disease patient.
Are there others who reproduced these (or comparable) experiments ? Is
there anyone else who sees a link with prion-diseases ?
As I red an interesting abstract of selective binding of cellular prion
protein to Bcl-2 (C. Kurschner and Morgan J.I. in Brain Res. Mol. Brain
Res., 1995, 30(1):165-168), maybe this must be the way to look at prion
diseases and other neurodegenerative diseases, namely receptor-blocking of
Bcl-2 by (deformed) prion protein, followed by apoptosis (because of no
feedback-regulation by Bcl-2).
Is there anyone in the complicated world of neuroscience who works on rare
neurodegenerative disorders (maybe specific on Alpers' disease) and who
also thinks it would be interesting for us to sequence one or another gene
involved with apoptosis or prion-diseases ? Please let me know !
PS At the moment we are waiting for the results of the sequencing of the
cellular prion protein.
I'm looking forward to you reactions !
Kind regards from Brunhilde (Belgium)
brunhilde.keijers at ping.be