2 results about "Myotonia" patented technology

The application discloses a gene medicine for treating deafness-dystonia-optic neuropathy syndrome caused by TIMM8A gene defect and application. The medicine core is a modularly designed adeno-associated virus vector system which carries an expression cassette containing a tissue-specific promoter and a human TIMM8A treatment gene. The application realizes precise treatment through local minimally invasive injection according to different symptoms: AAV-Anc80L65-MYO15-TIMM8A is injected into the cochlea to treat sensorineural hearing loss; AAV2 / 4-Brn3b-TIMM8A is injected into the vitreous body of the eyeball to treat optic neuropathy; AAV9-hSyn-TIMM8A is injected into the central lateral ventricle to treat dystonia. Preclinical studies have confirmed that the strategy can efficiently express TIMM8A protein in the corresponding target cells, significantly repair hearing, visual and motor function defects, and correct mitochondrial dysfunction from the pathological mechanism.

Disclosed herein are products, methods, and uses for treating, ameliorating, delaying the progression of, and / or preventing a disease or disorder associated with expression of an aberrant lamin A (LMNA) gene or progerin gene. Such disease or disorder includes, but is not limited to, a laminopathy, progeroid syndrome, progeria, or aging disorder resulting from the aberrant expression of LMNA or progerin. In some instances, the progeria is Hutchinson-Gilford progeria syndrome (HGPS). In some instances, the disease or disorder associated with the expression of progerin is premature aging or natural aging including, but not limited to, atherosclerosis, alopecia, osteoporosis, cardiovascular disease, skin abnormalities, fat storage, stroke, myocardial infarction, stroke, heart failure, muscle wasting, muscle weakness, myotonia, skeletal muscle problems, abnormalities of the retina, hip weakness, abdominal muscle weakness, joint and spinal abnormalities, lower leg weakness, shoulder weakness, hearing loss, and / or tissue inflammation. More particularly, disclosed herein are RNA interference-based products, methods, and uses for inhibiting or downregulating the expression of progerin. Even more particularly, the disclosure provides guide RNA and a CRISPR endonuclease for inhibiting or downregulating the expression of progerin and methods of using said guide RNA and a CRISPR endonuclease to correct a mutation in the LMNA gene and inhibit or downregulate progerin expression in cells and / or in cells of a subject having a condition resulting from the expression of progerin including, but not limited to, HGPS or progeria, an HGPS-like condition affecting LMNA mutations that affect exon 11 splicing, or a condition resulting from the expression of progerin.