DOUGLAS M WALLACE, MD
Osteopathic Medicine at Wood St, Spartanburg, SC

5185244, Feb 9, 1993

Dec 8, 1989

7/447679

Douglas C. Wallace - Atlanta GA

Emory University - Atlanta GA

C12Q 168, C12P 1934, G01N 3348, C07H 1512

435 6

The present invention relates a method and manufacture for detecting neuromuscular disease, particularly Leber's hereditary optic neuropathy, by ascertaining whether a point mutation has occurred at the 11778 nucleotide position in the mitochondrial DNA of a patient. The invention provides methods to detect this mutation including digestion of the patient's mtDNA with restriction endonucleases followed by analysis of the resulting fragments, differential hybridization of oligonucleotides procedures, and differential PCR techniques.

5670320, Sep 23, 1997

Nov 14, 1994

8/339912

Douglas C. Wallace - Atlanta GA
Michael D. Brown - Atlanta GA

Emory University - Atlanta GA

C12Q 168, G01N 3353, C12M 100, C07H 2102

435 6

The present invention provides an assay for diagnosing or predicting a predisposition to dystonia and/or Leber's Hereditary Optic Neuropathy by detecting the presence of a mutation in mitochondrial DNA, in the oxidative phosphorylation (OXPHOS) gene ND6, that causes a substitution in amino acid 72 of the ND6 polypeptide. In particular, the mutation can be at mtDNA position 14459. Also provided are therapeutic treatments for dystonia and/or Leber's Hereditary Optic Neuropathy, as well as methods of screening compounds for effectiveness in treating these diseases and an animal model.

6900026, May 31, 2005

Nov 9, 2001

10/039869

Douglas C. Wallace - Atlanta GA, US
Simon Melov - Atlanta GA, US
James D. Crapo - Cherry Hills Village CO, US
Brian J. Day - Englewood CO, US

Duke University - Durham NC
Emory University - Atlanta GA

C12Q001/34

435 18, 424 92

The present application describes methods for the testing of compounds of potential usefulness as therapeutic antioxidants and/or as therapeutic free radical scavengers. The animal model for testing such compounds is the Sod2CJE homozygous Manganese Superoxide Dismutase-deficient mouse. When pups of these mice are treated with certain antioxidants, they survive past about 7 days of age, and later develop characteristic histological changes and characteristic neurobehavioral disorders. Those treated mice can be further treated with test compounds which may or may not cross the blood brain barrier, and the life span and physical and neurobehavioral characteristics of those mice provide information about the potential utility of the test compound as a therapeutic antioxidant. Phenotypes of the treated mice allow conclusions regarding targeted areas of the brain and thus, applications to particular disorders such as Parkinsonism.

5494794, Feb 27, 1996

Oct 20, 1992

7/963723

Douglas C. Wallace - Atlanta GA

Emory University - Atlanta GA

C12Q 168, C12P 1934

435 6

This invention provides a method of Alzheimer's disease and/or Parkinson's Disease. The method comprises detecting in a sample from a subject the presence of a mutation, for example, in nucleotide position 4,336, 3,397, 3,196 or an insertion between positions 956 and 965, of mitochondrial DNA. The presence of the mutation indicates the presence of or a predisposition to Alzheimer's and Parkinson's disease. Since each mutation increases the likelihood of developing or having Alzheimer's and Parkinson's disease, the detection of more than one of the mutations in an individual can increase the probability of having or developing the disease. The invention also provides a method of determining mutations associated with the presence of or predisposition to Alzheimer's and/or Parkinson's disease. The method comprises: (a) obtaining a mitochondrial DNA-containing sample from a subject with Alzheimer's and Parkinson's disease; (b) determining the presence of mutations in the mitochondrial DNA; (c) comparing the mutations to mutations found in a normal subject; and (d) determining which mutations have a greater rate of occurrence in the subject with Alzheimer's and Parkinson's disease.

5296349, Mar 22, 1994

Jun 14, 1990

7/538267

Douglas C. Wallace - Atlanta GA

Emory University - Atlanta GA

C12Q 168

435 6

The present invention relates to a method and manufacture for detecting neuromuscular disease, particularly Myoclonic Epilepsy and Ragged Red Fiber disease, by ascertaining whether a transition mutation has occurred at the 8344 nucleotide position in the mitochondrial DNA of a patient. The invention provides methods to detect this mutation including digestion of the patient's mtDNA with restriction endonucleases followed by analysis of the resulting fragments, differential hybridization of oligonucleotides, direct PCR sequencing and denaturing gradient gel electrophoresis.

6013858, Jan 11, 2000

Oct 31, 1997

8/961871

Douglas C. Wallace - Atlanta GA
Brett H. Graham - Decatur GA
Grant R. MacGregor - Atlanta GA

Emory University - Atlanta GA

C12N 1509, C12N 1563, C12N 1500, C12N 500

800 18

Provided are transgenic mice genetically engineered for a deficiency of the heart-skeletal muscle isoform of the adenine nucleotide translocator protein (Ant1). These mice exhibit histological, biochemical and physiological signs of deficiency in oxidative phosphorylation and energy generation, and these mice provide the first animal model for mitochondrial myopathy and hypertrophic cardiomyopathy. This animal model is used in methods for testing compounds for therapeutic value in treating failure to exchange ATP and ADP across the mitochondrial inner membrane, OXPHOS deficiency and in treating cardiac hypertrophy.