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Research Digest
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| Mar. 02 |
Gene Therapy Explored for mtDNA Diseases
Manfredi G et al. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA — encoded gene, to the nucleus. Nat Genet. 2002 Feb 25 [epub ahead of print] [PubMed abstract] |
| Mar. 02 |
Better Diagnosis, Treatment in the Works for MNGIE & MDS
Spinazzola A et al. Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem. 2002 Feb 8;277(6):4128-33. [PubMed abstract] Saada A et al. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet. 2001 Nov;29(3):342-4. [PubMed abstract] |
| Nov. 01 |
Aerobic Exercise Could Worsen mtDNA
Taivassalo T et al. Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects. Ann Neurol. 2001 Aug;50(2):133-41. [PubMed abstract] [Quest] |
| Nov. 01 |
New genes linked to PEO
Moraes CT et al. A helicase is born. Nat Genet. 2001 Jul;28(3):200-1. [PubMed abstract] Van Goethem G et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet. 2001 Jul;28(3):211-2. [PubMed abstract] Spelbrink JN et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet. 2001 Jul;28(3):223-31. [PubMed abstract] [Quest] |
| July 01 |
New insights into mitochondrial diseases [Quest] Inoue K et al. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat Genet. 2000 Oct;26(2):176-81. [PubMed abstract] Kolesnikova et al. Suppression of mutations in mitochondrial DNA by tRNAs imported from the cytoplasm. Science. 2000 Sep 15;289(5486):1931-3. [PubMed abstract] |
| Dec. 99 |
Fluorescent Dye Eliminates Mitochondria From Cells, Aids Procedure to Determine if Genetic Defects Are Nuclear or Mitochondrial Williams AJ, et al. (1999): A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G. Human Genetics, 8(9):1691-1697. [PubMed abstract] |
| Dec. 99 |
Mitochondrial DNA Mutations Can Increase or Decrease Efficiency of Mitochondrial Replication Vergani L, et al. (1999): Introduction of heteroplasmic mitochondrial DNA (mtDNA) from a patient with NARP into two human rho0 cell lines is associated either with selection and maintenance of the NARP mutant mtDNA or failure to maintain mtDNA. Human Genetics, 8(9):1751-1755. [PubMed abstract] |
| Dec. 99 |
Supervised Exercise Found Beneficial in Mitochondrial, Other Myopathies Taivassalo T, et al. (1999): Short-term aerobic training response in chronic myopathies. Muscle and Nerve, 22 (9): 1239-1243. (MDA funded) [PubMed abstract] [MDA Technical Summary] |
| Dec. 99 |
Accumulation of Mitochondrial DNA Deletions in Inherited PEO is Similiar to That Associated With Normal Aging Moslemi A-R, et al. (1999): Autosomal dominant progressive external opthalmoplegia: Distribution of multiple mitochondrial DNA deletions. Neurology, 53(1):79-84. [PubMed abstract] |
| Dec. 99 |
Kearns-Sayre in Thai Patients Caused by Mitochondrial DNA Deletion Specific to Thai Population Lertrit P, et al. (1999): A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome. Human Genetics, 105(1-2):127-131. [PubMed abstract] |
| Dec. 99 |
Dolly the Cloned Sheep's Mitochondrial Genes Come From Donor Egg, Say Researchers Evans MJ, et al. (1999): Mitochondrial DNA genotypes in nuclear transfer-derived cloned sheep. Nature Genetics, 23:90-93. (MDA funded) [PubMed abstract] |
| Dec. 99 |
Mitochondrial Defect Causing Exercise Intolerance May be Underdiagnosed Andreu AL, et al. (1999): Exercise intolerance due to mutations in the cytrochrome b gene of mitochondrial DNA. New England Journal of Medicine, 341(14):1037-1044. (MDA funded) [PubMed abstract] [MDA Technical Summary] |
| Sept. 99 |
First Mouse Model of Mitochondrial Disease Developed Marchington DR et al. (1999): Transmitochondrial mice carrying resistance to chloramphenicol on mitochondrial DNA: Developing the first mouse model of mitochondrial disease. Nature Medicine, 5(8):957-960. [PubMed abstract] [Quest] |
| Aug. 99 |
Evidence for Oxidant Stress and Iron Accumulation in Cell Lines Derived From Friedreich's Ataxia Patients Wong, A., et al. (1999): The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Human Molecular Genetics, 8(3):425-430. [PubMed abstract] [MDA Technical Summary] |
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