A histological and molecular analysis of levator veli palatini in a population of subjects with cleft palate.

摘要

This investigation performed a histological and molecular analysis of the levator veli palatini (LVP) muscle in a population of subjects with cleft palate. The proportion of Type I and Type II muscle fibers in LVP was calculated and a molecular analysis targeting three mitochondrial myopathies, KSS, MELAS, and MERRF was performed on the LVP muscle tissue.; The group muscle fiber type proportions were calculated to be 47.4% for Type I muscle fibers and 52.6% for Type II muscle fibers for LVP muscle from seven subjects with cleft palate. The results of this investigation indicated that the group Type II muscle fiber type proportion of 52.6% in this population of subjects with cleft palate was significantly higher than muscle fiber type proportion in LVP reported for normal subjects of the same age.; The molecular analysis of LVP detected one nine base pair deletion and nine nucleotide variants within the mitochondrial genome near the mutations associated with the mitochondrial myopathies, KSS, MELAS, and MERRF in fifteen subjects with cleft palate. The nine base pair deletion was a common mutation found in Asian populations. Seven of the nine mutations identified were known mtDNA variants that did not effect a change in relation to amino acid composition of the encoded proteins in the mitochondria. Of the remaining two mtDNA variants, one mutation, (T3394C), did effect an amino acid change and has been correlated with a muscle dysfunction disease. The other remaining mtDNA variant C3333T, did not cause and amino acid change but had not been previously identified as a mtDNA variant.