Transaldolase deficiency influences the pentose phosphate pathway, mitochondrial homoeostasis and apoptosis signal processing

Biochemical Journal - Tập 415 Số 1 - Trang 123-134 - 2008
Yueming Qian1, Sanjoy Banerjee1, Craig E. Grossman1,2, Wendy Amidon1, György Nagy1, Maureen Barcza3, Brian Niland1,2, David R. Karp4, Frank A. Middleton3, Katalin Bánki5, András Perl1,2
1Department of Medicine, SUNY Upstate Medical University, Syracuse, NY 13210, U.S.A.
2Department of Microbiology and Immunology, SUNY Upstate Medical University, Syracuse, NY 13210, U.S.A.
3Department of Physiology, SUNY Upstate Medical University, Syracuse, NY 13210, U.S.A.
4University of Texas Southwestern Medical Center, Dallas, TX 75390, U.S.A.
5Department of Pathology, SUNY Upstate Medical University, Syracuse, NY 13210, U.S.A.

Tóm tắt

TAL (transaldolase) was originally described in the yeast as an enzyme of the PPP (pentose phosphate pathway). However, certain organisms and mammalian tissues lack TAL, and the overall reason for its existence is unclear. Recently, deletion of Ser171 (TALΔS171) was found in five patients causing inactivation, proteasome-mediated degradation and complete deficiency of TAL. In the present study, microarray and follow-up Western-blot, enzyme-activity and metabolic studies of TALΔS171 TD (TAL-deficient) lymphoblasts revealed co-ordinated changes in the expression of genes involved in the PPP, mitochondrial biogenesis, oxidative stress, and Ca2+ fluxing. Sedoheptulose 7-phosphate was accumulated, whereas G6P (glucose 6-phosphate) was depleted, indicating a failure to recycle G6P for the oxidative branch of the PPP. Nucleotide analysis showed depletion of NADPH and NAD+ and accumulation of ADP-ribose. TD cells have diminished Δψm (mitochondrial transmembrane potential) and increased mitochondrial mass associated with increased production of nitric oxide and ATP. TAL deficiency resulted in enhanced spontaneous and H2O2-induced apoptosis. TD lymphoblasts showed increased expression of CD38, which hydrolyses NAD+ into ADP-ribose, a trigger of Ca2+ release from the endoplasmic reticulum that, in turn, facilitated CD20-induced apoptosis. By contrast, TD cells were resistant to CD95/Fas-induced apoptosis, owing to a dependence of caspase activity on redox-sensitive cysteine residues. Normalization of TAL activity by adeno-associated-virus-mediated gene transfer reversed the elevated CD38 expression, ATP and Ca2+ levels, suppressed H2O2- and CD20-induced apoptosis and enhanced Fas-induced cell death. The present study identified the TAL deficiency as a modulator of mitochondrial homoeostasis, Ca2+ fluxing and apoptosis.

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Biochemical Journal

Tập 415 Số 1

123-134

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