+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Increased variation in mtDNA in patients with familial sensorineural hearing impairment

, : Increased variation in mtDNA in patients with familial sensorineural hearing impairment. Human Genetics 113(3): 220-227

Analyses of mitochondrial DNA (mtDNA) sequences have revealed non-neutral patterns, suggesting that many amino acid mutations in animal mtDNA may be mildly deleterious, but this has not been verified in human clinical series. Since sensorineural hearing impairment (SNHI) is a common manifestation in many of the syndromes caused by mutations in mtDNA, this may be regarded as the phenotype of choice in attempts to detect mutations that may have a mildly deleterious effect on mitochondrial function. We selected 32 subjects from among 117 unrelated SNHI patients with SNHI in maternal relatives by means of family history, determined the entire coding region sequence of mtDNA and compared the sequence variation with that in 32 haplogroup-matched controls taken at random from 192 Finnish sequences. The 32 control sequences differed from the remaining 160 sequences by 36+/-9 substitutions (mean +/- SD), while the difference for the 32 patients was 58+/-4 substitutions ( P=0.005 for difference; Wilcoxon signed rank test). Differences were also found in the number of new haplotypes and new non-synonymous mutations or mutations in tRNA or rRNA genes. A total of 12 rare mtDNA variants were detected in the patients, and only 3 of these were considered to be neutral in effect. It is proposed that increased sequence variation in mtDNA may be a genetic risk factor for SNHI, and the increased frequency of rare haplotypes in these patients points to the presence of mildly deleterious mutations in mtDNA.


PMID: 12802679

DOI: 10.1007/s00439-003-0966-9

Other references

Arehart, L.A.; Ames, D.R., 1972: Performance of early-weaned lambs as affected by sound type and intensity. Early weaned lambs were subjected to 3 types of noise: USA Standards Institute (USASI) noise, instrumental music and intermittent miscellaneous sounds (IMS) at 75 and 100 decibels (dB). Relative to control periods spent with a background noise of...

Jones, RKH.; Baker, RA., 1984: Descriptions of unionicolid larvae from three North American unionid bivalves. Four larval types of unionicolid mite (Unionicola abnormipes, U. serrata, U. aculeata, U. fossulata) from a lake in New York USA are described and figured. Three were found in Lampsilis siliquoidea (Barnes), one of these also being found in Ellipt...

González-Casado, A.; Navas, N.; del Olmo, M.; Vílchez, J.L., 1998: Determination of bisphenol A in water by micro liquid-liquid extraction followed by silylation and gas chromatography-mass spectrometry analysis. A method for the determination of bisphenol A according to the European Union guideline, which establishes a limit of 0.1 ng/mL for organic pollutants in water, is proposed. The method involves a micro liquid-liquid extraction using dichloromethan...

Lemire J.M.; Fausto N., 1991: Multiple gamma fetoprotein rnas in adult rat liver cell type specific expression and differential regulation. Multiple .alpha.-fetoprotein (AFP) RNAs are expressed in the rat liver and are differentially regulated during development. We examined the expression and cellular distribution of the full-length AFP RNA (major form, 2.1 kilobases highly expressed...

Kaestner, A., 1956: Lehrbuch der Speziellen Zoologie Teil 1: Wirbellose Lief. 3 Jena : 481-658 figs. 1-138. Unknown

Vargas, L., 1941: Detalles morfolo-gicos poco o nada conocidos de Ano-pheles mexicanos. Ciencia Mexico, 2: 66-69

Lee, Y.H., 1982: Textural properties of coagulated milk products containing soy protein. Addition of native or boiled soya proteins at 10% of total protein altered the microstructure of processed cheese from fine to coarse network. Cheese containing soya proteins had free fat on the surface, and hardness and cohesiveness were decrease...

Rzeszowska, G.; Ciszewska-Popiolek, B., 1967: Histochemical studies on the activity of beta glucuronidase in the liver and uterus during pregnancy in guinea pigs. Annales Universitatis Mariae Curie-Sklodowska. Sectio D: Medicina 22: 249-256

Li, H.; Zhang, X.; Fishbein, L.; Kweh, F.; Campbell-Thompson, M.; Perrin, G.Q.; Muir, D.; Wallace, M., 2011: Analysis of steroid hormone effects on xenografted human NF1 tumor schwann cells. The neurofibroma, a common feature of neurofibromatosis type 1 (NF1), is a benign peripheral nerve sheath tumor that contains predominantly Schwann cells (SC). There are reports that neurofibroma growth may be affected by hormonal changes, particu...

Evens, R.G.; Mettler, F.A., 1985: National CT use and radiation exposure: United States 1983. Data from two sources provide an estimate that in 1983, 5-5.5 million computed tomographic (CT) procedures were performed in the U.S. Of those, 63% were head scans, 27% body, and 10% spine. Ten percent or fewer were high-resolution studies, primar...