39 results about "Leber's hereditary optic neuropathy" patented technology

The invention relates the method of treatment or amelioration of mitochondrial disorders such as Alzheimer's disease, Parkinson's disease, Friedreich's ataxia (FRDA), cerebellar ataxias, Leber's hereditary optic neuropathy (LHON), mitochondrial myopathy, encephalopathy, lactacidosis, stroke (MELAS), Myoclonic Epilepsy with Ragged Red Fibers (MERFF), amyotrophic lateral sclerosis (ALS), motor neuron diseases, Huntington's disease, macular degeneration, and epilepsy, with chroman derivatives of Formula I or Formula II as described herein.

Methods of treating or suppressing mitochondrial diseases, such as Friedreich's ataxia (FRDA), Leber's Hereditary Optic Neuropathy (LHON), mitochondrial myopathy, encephalopathy, lactacidosis, stroke (MELAS), or Kearns-Sayre Syndrome (KSS) are disclosed, as well as compounds useful in the methods of the invention, such as alpha-tocopherol quinone. Methods and compounds useful in treating other disorders are also disclosed. Energy biomarkers useful in assessing the metabolic state of a subject and the efficacy of treatment are also disclosed. Methods of modulating, normalizing, or enhancing energy biomarkers, as well as compounds useful for such methods, are also disclosed.

Methods of treating or suppressing mitochondrial diseases, such as Friedreich's ataxia (FRDA), Leber's Hereditary Optic Neuropathy (LHON), mitochondrial myopathy, encephalopathy, lactacidosis, stroke (MELAS), or Kearns-Sayre Syndrome (KSS) are disclosed, as well as compounds useful in the methods of the invention. Methods and compounds useful in treating other disorders are also disclosed. Energy biomarkers useful in assessing the metabolic state of a subject and the efficacy of treatment are also disclosed. Methods of modulating, normalizing, or enhancing energy biomarkers, as well as compounds useful for such methods, are also disclosed.

Methods of treating or suppressing mitochondrial diseases, such as Friedreich's ataxia (FRDA), Leber's Hereditary Optic Neuropathy (LHON), mitochondrial myopathy, encephalopathy, lactacidosis, stroke (MELAS), or Kearns-Sayre Syndrome (KSS) are disclosed, as well as compounds useful in the methods of the invention. Energy biomarkers useful in assessing the metabolic state of a subject and the efficacy of treatment are also disclosed.

The present invention relates to methods of treating Leber's hereditary optic neuropathy and dominant optic atrophy with tocotrienol quinones, including alpha-tocotrienol quinone, in order to alleviate symptoms of the disease.

Methods of treating or suppressing mitochondrial diseases, such as Friedreich's ataxia (FRDA), Leber's Hereditary Optic Neuropathy (LHON), mitochondrial myopathy, encephalopathy, lactacidosis, stroke (MELAS), Kearns-Sayre Syndrome (KSS), are disclosed, as well as compounds useful in the methods of the invention, such as 2-(3-hydroxy-3-methyl-butyl)-6-(het)aryl-p-quinone or as 2-(3-hydroxy-3-methylbutyl)-3-(het)aryl-p-quinone derivatives. Energy biomarkers useful in assessing the metabolic state of a subject and the efficacy of treatment are also disclosed. Methods of modulating, normalizing, or enhancing energy biomarkers, as well as compounds useful for such methods, are also disclosed.

Methods of treating, preventing or suppressing symptoms associated with mitochondrial diseases, such as Friedreich's ataxia (FRDA), Leber's Hereditary Optic Neuropathy (LHON), dominant optic atrophy (DOA); mitochondrial myopathy, encephalopathy, lactacidosis, stroke (MELAS), Leigh syndrome or Kearns-Sayre Syndrome (KSS) with compounds of Formula (I) are disclosed. Methods of modulating, normalizing, or enhancing energy biomarkers, as well as compounds useful for such methods are also disclosed.

Methods of treating or suppressing mitochondrial diseases, such as Friedreich's ataxia (FRDA), Leber's Hereditary Optic Neuropathy (LHON), mitochondrial myopathy, encephalopathy, lactacidosis, and stroke (MELAS), Kearns-Sayre Syndrome (KSS), are disclosed, as well as compounds useful in the methods of the invention, such as 4-(p-quinolyl)-2-hydroxybutanamide derivatives. Methods and compounds useful in treating other disorders such as amyotrophic lateral sclerosis (ALS), Huntington's disease, Parkinson's disease, and pervasive developmental disorders such as autism are also disclosed. Energy biomarkers useful in assessing the metabolic state of a subject and the efficacy of treatment are also disclosed. Methods of modulating, normalizing, or enhancing energy biomarkers, as well as compounds useful for such methods, are also disclosed.

Methods of treating, preventing or suppressing symptoms associated with mitochondrial diseases, such as Friedreich's ataxia (FRDA), Leber's Hereditary Optic Neuropathy (LHON), dominant optic atrophy (DOA); mitochondrial myopathy, encephalopathy, lactacidosis, stroke (MELAS), Leigh syndrome or Kearns-Sayre Syndrome (KSS) with vitamin K are disclosed.

The invention relates the method of treatment or amelioration of mitochondrial disorders such as Alzheimer's disease, Parkinson's disease, Friedreich's ataxia (FRDA), cerebellar ataxias, Leber's hereditary optic neuropathy (LHON), mitochondrial myopathy, encephalopathy, lactacidosis, stroke (MELAS), Myoclonic Epilepsy with Ragged Red Fibers (MERFF), amyotrophic lateral sclerosis (ALS), motor neuron diseases, Huntington's disease, macular degeneration, and epilepsy, with chroman derivatives of Formula I or Formula II as described herein.

The invention discloses a recombinant human NADH (nicotinamide-adenine dinucleotid) dehydrogenase subunit-4 gene and a constructing method of an expression vector thereof. The nucleotide sequence of the gene is shown in SEQ ID NO:1, and the size of the nucleotide sequence is 2889 bp. The constructing steps of adeno-associate virus vectors are as follows: firstly constructing a recombinant adeno-associated virus vector containing the human NADH dehydrogenase subunit-4 gene, and then coating, infecting, purifying, concentrating and identifying the recombinant adeno-associated virus. According to the method, the recombinant adeno-associated virus vector with the recombinant human NADH dehydrogenase subunit-4 gene can be quickly and simply constructed, and is packaged to obtain the adeno-associated virus vector with complex defects. The gene can be used for gene therapy of LHON (leber's hereditary optic neuropathy).

Methods of treating or suppressing mitochondrial diseases, such as Friedreich's ataxia (FRDA), Leber's Hereditary Optic Neuropathy (LHON), mitochondrial myopathy, encephalopathy, lactacidosis, stroke (MELAS), Kearns-Sayre Syndrome (KSS), are disclosed, as well as compounds useful in the methods of the invention, such as 2-(3-hydroxy-3-methyl-butyl)-6-(het)aryl-p-quinone or as 2-(3-hydroxy-3-methylbutyl)-3-(het)aryl-p-quinone derivatives. Energy biomarkers useful in assessing the metabolic state of a subject and the efficacy of treatment are also disclosed. Methods of modulating, normalizing, or enhancing energy biomarkers, as well as compounds useful for such methods, are also disclosed.

The invention relates to an artificial transcription factor comprising a polydactyl zinc finger protein targeting specifically a receptor gene promoter fused to an inhibitory or activatory protein domain, a nuclear localization sequence, and a protein transduction domain. In particular examples these receptor gene promoters regulate the expression of the endothelin receptor A, the endothelin receptor B, the Toll-like receptor 4 or the high-affinity IgE receptor. Artificial transcription factors directed to the endothelin A or B receptors are useful in the treatment of diseases modulated by endothelin, such as cardiovascular diseases, and, in particular, eye diseases, e.g. retinal vein occlusion, retinal artery occlusion, macular edema, optic neuropathy, central serous chorioretinopathy, retinitis pigmentosa, Leber's hereditary optic neuropathy, and the like. Artificial transcription factors directed to the Toll-like receptor 4 or the IgE receptor are useful for the treatment of autoimmune disorders, and the like, and allergic disorders, respectively.

The invention provides an in-vitro diagnostic kit of Leber hereditary optic neuropathy (LHON). The in-vitro diagnostic kit comprises SEQIDNO.1-12. The in-vitro diagnostic kit provides a rapid, accurate and cheap genetic level detection means for the clinic diagnosis of the LHON, can realize the prevention and early-stage timely diagnosis of the LHON, can find high risk group, improves the diagnosis rate of the HLON, can effectively realize antenatal genetic counseling and premarital counseling, improves the population quality, and reduces the family and national medical expenditure.

The invention relates to a detection primer, a detection kit and a detection method of Leber's hereditary optic neuropathy (LHON) mitochondrial DNA gene mutations. The invention, on the basis of Sanger sequencing principle, has the characteristics of being highly sensitive, stable and accurate; four most common pathogenic mutations of LHON mtDNA can be simultaneously detected, so that the problems of an existing LHON mitochondrial DNA mutation detection method, which is low in sensitivity, not strong enough in specificity, capable of causing pollution easily, high in expense and the like, can be solved; therefore, an accurate gene diagnosis method is provided for LHON; and the invention has important implications for genetic counseling and gene therapy of the disease (the LHON).

The invention provides a gene detection method of Leber's hereditary optic neuropathy, (LHON), a gene chip and a kit. The kit comprises a plurality of PCR probes and primers for detecting SNP of optic nerve lesion genes. The chip is provided with detection probes aiming at 13 mitochondrial genes and 46 SNP loci. According to the gene detection method, the kit and the gene chip are utilized to perform detection, the gene detection method comprises the following steps: performing amplification and hybridization on marked samples; scanning hybridization signals; obtaining chip data, and processing the obtained chip data; judging SNP loci, and judging and reading SNP loci information of the visual lesion genes. The gene detection method disclosed by the invention overcomes the detects that by adopting the direct sequencing, the using sample volume is large and the blood sample quantity is large, the amplification time is long, the amplification frequency is high, and false positive or false negative results can be easily caused, and the like, so that the pain of detected persons can be relieved, and not only be the detection accuracy improved, but also the detection time is shortened. According to the invention, the chip and the kit which have the characteristics of being rapid and being high in flux are provided, so that the early diagnosis and treatment of diseases can be facilitated, and nationwide large-scale screening and preventive inspection are convenient to carry out.

The invention relates to the field of medicine, and particularly relates to a Leber's hereditary optic neuropathy (LHON) gene diagnosis kit or reagent comprising a PCR primer mixture liquid; the primer mixture liquid comprises a pentose nucleic acid (PNA) probe for sealing a wild-type mitochondrion (which is a normal human mitochondrion without generation of mutation) deoxyribonucleic acid (DNA) and forward and reverse primers for amplifying mutant-type mitochondrion DNA. The kit or reagent has the advantages of simple operation, high sensitivity and good specificity, and is an efficient, sensitive, stable and specific LHON gene diagnosis detection technology.

Disclosed herein is a recombinant nucleic acid, comprising: a mitochondrial targeting sequence; a mitochondrial protein coding sequence, wherein said mitochondrial protein coding sequence encodes a polypeptide comprising a mitochondrial protein; and a 3′UTR nucleic acid sequence. Also disclosed is a pharmaceutical composition comprising the recombinant nucleic acid and a method of treating Leber's hereditary optic neuropathy (LHON) using the pharmaceutical composition.

The invention relates to an artificial transcription factor comprising a polydactyl zinc finger protein targeting specifically a receptor gene promoter fused to an inhibitory or activatory protein domain, a nuclear localization sequence, and a protein transduction domain. In particular examples these receptor gene promoters regulate the expression of the endothelin receptor A, the endothelin receptor B, the Toll-like receptor 4 or the high-affinity IgE receptor. Artificial transcription factors directed to the endothelin A or B receptors are useful in the treatment of diseases modulated by endothelin, such as cardiovascular diseases, and, in particular, eye diseases, e.g. retinal vein occlusion, retinal artery occlusion, macular edema, optic neuropathy, central serous chorioretinopathy, retinitis pigmentosa, Leber's hereditary optic neuropathy, and the like. Artificial transcription factors directed to the Toll-like receptor 4 or the IgE receptor are useful for the treatment of autoimmune disorders, and the like, and allergic disorders, respectively.

Provided is a recombinant nucleic acid, comprising: a mitochondrial targeting sequence; a mitochondrial protein coding sequence, wherein said mitochondrial protein coding sequence encodes a polypeptide comprising a mitochondrial protein; and a 3'UTR nucleic acid sequence. Also provided are a pharmaceutical composition comprising the recombinant nucleic acid and a method of treating Leber's hereditary optic neuropathy (LHON) using the pharmaceutical composition.

The invention provides a recombinant adeno-associated virus-mediated Leber hereditary optic neuropathy therapeutic agent gene drug. The recombinant adeno-associated virus vector carries the nuclear expression cassette of ND4 protein. In vivo experiments show that the recombinant adeno-associated virus vector could be efficiently introduced into the retina by intravitreal injection, and the ND4 protein is continuously and stably expressed and localized in mitochondria to alleviate or recover the adverse symptoms caused by mutation of ND4 gene. The results suggest that the recombinant adeno-associated virus vector might be a promising drug for the treatment of Leber hereditary optic neuropathy.

Provided is a recombinant nucleic acid, comprising: a mitochondrial targeting sequence; a mitochondrial protein coding sequence, wherein the mitochondrial protein coding sequence encodes a polypeptidecomprising a mitochondrial protein; and a 3'UTR nucleic acid sequence. Also provided are a pharmaceutical composition comprising the recombinant nucleic acid and a method of treating Leber's hereditary optic neuropathy (LHON) using the pharmaceutical composition.