Molecular Mechanisms of
To Dr. Naoaki Ishii (Poster #0263)
Very intriguing studies. Was the hypersensitivity to the elevated oxygen levels and to methyl viologen the only phenotype in the Mev-1 mutant?
Yuuichi Goto et al. presented a patient with mitochondrial myopathy associated with succinate dehydrogenase deficiency in the Annual Meeting of American Society of Human Genetics in October, 1998 (AJHG abstract, A362). They identified compound heterozygous point mutations in the Fp subunit of SDH. I do not know the clinical course of their patient, but I guess the patient may not be able to survive as long as his/her peers. The mutations are associated with SDH deficiency not directly with aging. Precocious aging, if it actually occurs, is the just the consequence of the SDH deficiency. Most disease-associated mutations cause early death of the individuals harboring the mutations. Is there any direct evidence that a point mutation in cyt-1 is not one of many disease-associated mutations?
Mon Dec 14