Kearns-Sayre Syndrome (question)

[Jim Cummins]

Kearns Sayre syndrome is a maternally inherited lethal mitochondrial DNA
defect.  To my knowledge there is no treatment although redox therapy and
OXPHOS salvaging strategies such as Coenzyme Q10 have been speculated on. 
 It is one of many mtDNA related disorders that at worst are progressive
lethal diseases and at least are simple disorders of ageing.  A recent
paper from Cortopassi's group (not at my fingertips alas) shows that
Alzheimers sufferers have a high incidence of a mtDNA mutation that may
explain some aspects of this condition. It estimates that as many as 1.5
million US citizens may carry this mutation.  I'll be happy to supply
further reference material if you wish. 


Dr Jim Cummins                            +61-9-360 2668
School of Veterinary Studies          FAX =61-9-310 4144     
Murdoch University               cummins at possum.murdoch.edu.au
Murdoch, Western Australia 6150
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