TY - JOUR
T1 - A novel mitochondrial DNA point mutation in the tRNAIIe gene is associated with progressive external ophtalmoplegia
AU - Silvestri, Gabriella
AU - Servidei, Serenella
AU - Rana, M.
AU - Ricci, Enzo
AU - Spinazzola, A.
AU - Paris, E.
AU - Tonali, P.
PY - 1996
Y1 - 1996
N2 - We report a new mutation, a T → C transition at nt.4285 in the mitochondrial tRNAIle gene, in a sporadic case of progressive external ophtalmoplegia (PEO) and ragged-red fibers (RRF). The mutation, involving a highly conserved base-pair in the anticodon stem, was detected in high percentages (91%) in muscle, but not in blood. It has never been reported in literature in normal subjects and it was not found in any of 80 controls studied in our laboratory. The absence of the mutation in leukocytes in this case with pure muscle involvement confirms the importance of performing mtDNA studies in PEO patients preferentially on muscle rather than blood, which could give false negative results. Other mutations in the tRNAIle gene associated with different phenotypes have been previously reported. Thus, tRNAIle gene is confirmed to be another "hot spot" region for mtDNA mutations. © 1996 Academic Press, Inc.
AB - We report a new mutation, a T → C transition at nt.4285 in the mitochondrial tRNAIle gene, in a sporadic case of progressive external ophtalmoplegia (PEO) and ragged-red fibers (RRF). The mutation, involving a highly conserved base-pair in the anticodon stem, was detected in high percentages (91%) in muscle, but not in blood. It has never been reported in literature in normal subjects and it was not found in any of 80 controls studied in our laboratory. The absence of the mutation in leukocytes in this case with pure muscle involvement confirms the importance of performing mtDNA studies in PEO patients preferentially on muscle rather than blood, which could give false negative results. Other mutations in the tRNAIle gene associated with different phenotypes have been previously reported. Thus, tRNAIle gene is confirmed to be another "hot spot" region for mtDNA mutations. © 1996 Academic Press, Inc.
KW - PEO
KW - mitochondrial myopathy
KW - mtDNA
KW - PEO
KW - mitochondrial myopathy
KW - mtDNA
UR - http://hdl.handle.net/10807/166586
U2 - 10.1006/bbrc.1996.0453
DO - 10.1006/bbrc.1996.0453
M3 - Article
SN - 0006-291X
VL - 220
SP - 623
EP - 627
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
ER -