scholarly journals Optimal Estimate for Energy Requirements in Adult Patients With the m.3243A>G Mutation in Mitochondrial DNA

2020 ◽  
Author(s):  
Heidi E. E. Zweers ◽  
Mirian C. H. Janssen ◽  
Geert J. A. Wanten
Keyword(s):  
Mitochondrial Dna ◽  
Adult Patients ◽  
Energy Requirements ◽  
Optimal Estimate

A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA

Neurology ◽  
2006 ◽  
Vol 66 (10) ◽  
pp. 1470-1475 ◽  
Author(s):  
K.A.M. Majamaa-Voltti ◽  
S. Winqvist ◽  
A. M. Remes ◽  
U. Tolonen ◽  
J. Pyhtinen ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Adult Patients

scholarly journals Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases

2016 ◽  
Vol 19 (1) ◽  
pp. 35-42 ◽  
Author(s):  
J Xing ◽  
X Liu ◽  
Y Tian ◽  
J Tan ◽  
H Zhao
Keyword(s):  
Mitochondrial Dna ◽  
Hearing Impairment ◽  
Pediatric Patients ◽  
Age At Onset ◽  
Age Groups ◽  
Gene Mutations ◽  
Clinical Analysis ◽  
Adult Patients ◽  
Mtdna Mutations ◽  
Mutation Carriers

AbstractPrevious studies have linked GJB2 gene and mitochondrial DNA (mtDNA) mutations to nonsyndromic hearing impairment (NSHI), but no study in China has yet investigated these mutations across all age groups. To fill the gap, this study ascertained 263 patients with NSHI between ages 2 months and 60 years and analyzed the presence of GJB2 gene and mtDNA A1555G/C1494T mutations by polymerase chain reaction (PCR) and DNA sequencing. A total of 20 types of mutations were detected for the GJB2 gene. The GJB2 gene and mtDNA A1555G/C1494T mutations were detected in 18.63 and 11.41% cases, respectively. At the first hospital visit, GJB2 gene mutations were detected in 5.97% of adult patients (>18 years) and 22.96% pediatric patients (<18 years) (χ2 =9.506, p = 0.002), and mtDNA A1555G/C1494T mutations were detected in 31.34% of adult patients and 4.59% of pediatric patients (χ2 = 35.359, p <0.001). When patients were classified by age at onset of deafness, significantly more (20.68%) pediatric patients had GJB2 gene mutations than did adult patients (0.0%) (χ2 = 4.685; p = 0.006). Mitochondrial DNA A1555G/C1494T mutations were detected in 15.38% of adult-onset and 8.86% pediatric-onset patients, respectively. Interestingly, most GJB2 gene mutation carriers experienced NSHI onset within the first year of life (65.31%), while mtDNA A1555G/C1494T mutation carriers experienced onset at any age. Therefore, GJB2 gene mutations appear to contribute to congenital deafness, while mtDNAA1555G/C1494T mutations contribute mainly to acquired deafness in Chinese individuals. Both newborn hearing screening and genetic testing are important to diagnose and treat deafness.

scholarly journals Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Brain ◽  
2012 ◽  
Vol 135 (11) ◽  
pp. 3404-3415 ◽  
Author(s):  
D. Ronchi ◽  
C. Garone ◽  
A. Bordoni ◽  
P. Gutierrez Rios ◽  
S. E. Calvo ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Next Generation Sequencing ◽  
Adult Patients ◽  
Next Generation ◽  
Generation Sequencing

PT05.6: The Optimal Estimate for Energy Requirements in Patients with Mitochondrial Disease

2016 ◽  
Vol 35 ◽  
pp. S32
Author(s):  
J. Boes ◽  
M. van Hal ◽  
S. Leij ◽  
M. Janssen ◽  
G. Wanten ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Energy Requirements ◽  
Optimal Estimate

Energy requirements of non-ambulatory, tube-fed adult patients with cerebral palsy and chronic hypothermia

Nutrition ◽  
2003 ◽  
Vol 19 (9) ◽  
pp. 741-746 ◽  
Author(s):  
Roland N Dickerson ◽  
Rex O Brown ◽  
Debra L Hanna ◽  
John E Williams
Keyword(s):  
Cerebral Palsy ◽  
Adult Patients ◽  
Energy Requirements

Evaluation of the dark field method for large association of spread DNA

1978 ◽  
Vol 36 (2) ◽  
pp. 190-191
Author(s):  
Douglas C. Barker
Keyword(s):  
Electron Microscopy ◽  
Molecular Weight ◽  
Mitochondrial Dna ◽  
Extraction Method ◽  
Field Method ◽  
Dark Field ◽  
Kinetoplast Dna ◽  
Field Electron ◽  
Field Electron Microscopy ◽  
Dark Field Electron

A number of satisfactory methods are available for the electron microscopy of nicleic acids. These methods concentrated on fragments of nuclear, viral and mitochondrial DNA less than 50 megadaltons, on denaturation and heteroduplex mapping (Davies et al 1971) or on the interaction between proteins and DNA (Brack and Delain 1975). Less attention has been paid to the experimental criteria necessary for spreading and visualisation by dark field electron microscopy of large intact issociations of DNA. This communication will report on those criteria in relation to the ultrastructure of the (approx. 1 x 10-14g) DNA component of the kinetoplast from Trypanosomes. An extraction method has been developed to eliminate native endonucleases and nuclear contamination and to isolate the kinetoplast DNA (KDNA) as a compact network of high molecular weight. In collaboration with Dr. Ch. Brack (Basel [nstitute of Immunology), we studied the conditions necessary to prepare this KDNA Tor dark field electron microscopy using the microdrop spreading technique.

Properties of Isolated Mitochondria of Agaricus Bisporus: Their Relationship to Dormancy and the Germination of Spores

1973 ◽  
Vol 31 ◽  
pp. 458-459
Author(s):  
K. S. McCarty ◽  
R. F. Weave ◽  
L. Kemper ◽  
F. S. Vogel
Keyword(s):  
Mitochondrial Dna ◽  
Ethidium Bromide ◽  
Microscopic Examination ◽  
Agaricus Bisporus ◽  
Osmotic Shock ◽  
Electron Microscopic Examination ◽  
Electron Microscopic ◽  
Isolated Mitochondria ◽  
Dna Strands ◽  
Cytoplasmic Ribosomes

During the prodromal stages of sporulation in the Basidiomycete, Agaricus bisporus, mitochondria accumulate in the basidial cells, zygotes, in the gill tissues prior to entry of these mitochondria, together with two haploid nuclei and cytoplasmic ribosomes, into the exospores. The mitochondria contain prominent loci of DNA [Fig. 1]. A modified Kleinschmidt spread technique1 has been used to evaluate the DNA strands from purified whole mitochondria released by osmotic shock, mitochondrial DNA purified on CsCl gradients [density = 1.698 gms/cc], and DNA purified on ethidium bromide CsCl gradients. The DNA appeared as linear strands up to 25 u in length and circular forms 2.2-5.2 u in circumference. In specimens prepared by osmotic shock, many strands of DNA are apparently attached to membrane fragments [Fig. 2]. When mitochondria were ruptured in hypotonic sucrose and then fixed in glutaraldehyde, the ribosomes were released for electron microscopic examination.

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