Mitochondrial tRNAthr mutation in fatal infantile respiratory enzyme deficiency

Kyunglim L. Yoon, June R. Aprille, Susan G. Ernst

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The mitochondrial DNA (mtDNA) of two unrelated infants with lethal respiratory chain defects was studied using denaturing gradient gel analysis. This analysis revealed melting behavior differences suggesting a point mutation(s) in a restriction fragment containing the apocytochrome b and tRNAthr genes. Sequencing revealed that patient 1 had an A to G mutation at nt 15924 which is the last base pair of the anticodon stem adjacent to the anticodon loop of tRNAthr. Patient 2 had an A to G mutation at nt 15923 which is the last base of the anticodon loop. The results suggest that mtDNA mutations affecting the anticodon loop structure of tRNAthr cause mitochondrial disease that is fatal in infancy.

Original languageEnglish
Pages (from-to)1112-1115
Number of pages4
JournalBiochemical and Biophysical Research Communications
Issue number3
StatePublished - 15 May 1991

Bibliographical note

Funding Information:
We thank the following individuals: for patient referrals and clinical information, Drs. Mary Ampola, Barbara Centeno, Mary Connelly, Elizabeth Dooling, Cynthia Rasmussen, Sylvia Testa, Timos Valeas, Barbara West; for preparing the manuscript, Valerie Ricciardone; for technical assistance, Alec Gross. Dr. Guiseppi Attardi kindly provided the human mtDNA clones. The results will be submitted by K.L. Yoon in partial fulfillment of the requirements for the Ph.D. in Biology at Tufts University. Work was supported by NIH 16936 and BRSG, and the Charles H. Hood Foundation.


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