Breaking News
October 23, 2018 - Polyganics begins first-in-human clinical trial of LIQOSEAL for reducing CSF leakage
October 23, 2018 - Incyte Announces Positive Data from Phase 2b Trial of Ruxolitinib Cream in Patients with Atopic Dermatitis
October 23, 2018 - Cardiovascular admissions more common among most deprived
October 23, 2018 - Targeted drug and hormone therapy combination extends breast cancer survival
October 23, 2018 - Map of human liver cells reveals molecular make-up of individual cells
October 23, 2018 - Drugs approved for breast cancer treatment are effective and well tolerated in men
October 23, 2018 - EKF introduces new hand-held lactate analyzer for rapid sports performance monitoring
October 23, 2018 - Researchers identify common genetic connection in lung conditions
October 23, 2018 - Forbius initiates Phase 2a trial evaluating efficacy, safety of AVID100 in patients with squamous NSCLC
October 23, 2018 - Immunotherapy achieves major pathological response in early-stage mismatch repair deficient colon cancer
October 23, 2018 - New discovery may lead to better treatment options for pancreatic cancer patients
October 23, 2018 - FDA Approves Dupixent (dupilumab) for Moderate-to-Severe Asthma
October 23, 2018 - Researchers identify immune culprits linked to inflammation and bone loss in gum disease
October 23, 2018 - Despite lower risk factors, black men have higher rates of recidivism
October 23, 2018 - Study finds why pregnant women in mainland China, Hong Kong and Taiwan prefer cesarean delivery
October 23, 2018 - AbbVie’s U-ACHIEVE Phase 2b/3 dose-ranging study improves outcomes in patients with ulcerative colitis
October 23, 2018 - NCI grant awarded to Abramson Cancer Center to study CAR T cells In solid tumors
October 23, 2018 - Scientists use electron microscope to study chemical transformation in catalytic cross-coupling reaction
October 23, 2018 - Research offers new hope to men who received childhood cancer treatment
October 23, 2018 - New medical navigation system receives international innovation award
October 23, 2018 - Adverse Childhood Experiences Tied to Burnout in BSN Students
October 23, 2018 - High levels of oral disease among elite athletes affecting performance
October 23, 2018 - Study examines effect of immediate vs delayed pushing during labor on delivery outcomes
October 23, 2018 - LU-RRTC to spearhead capacity-building efforts for racial and ethnic populations
October 23, 2018 - Maintenance therapy with olaparib improves progression-free survival in advanced ovarian cancer patients
October 23, 2018 - Organic food may protect against cancers finds study
October 23, 2018 - Interweaving anxiety disorder associated with stuttering remains unrecognized
October 23, 2018 - Cannabis oil shown to significantly improve Crohn’s disease symptoms
October 23, 2018 - Knowledge of sex differences in lower urinary tract may help stimulate breakthroughs in diagnosis, management
October 23, 2018 - Common antibodies associated with myocardial infarction
October 23, 2018 - Study reveals new treatment option for women with advanced breast cancer resistant to hormone therapy
October 23, 2018 - Brain’s ‘Self-Control’ Center May Be Key to Weight-Loss Success
October 23, 2018 - Prosthetic valve mismatches common in transcatheter valve replacement, ups risk of death
October 23, 2018 - Can virtual reality help people become more compassionate?
October 23, 2018 - Screen time eclipsed outdoor time for most students, shows study
October 23, 2018 - SLU researcher seeks to find solutions for ‘chemo brain’ symptoms and side effects of opioids
October 23, 2018 - Plastics now commonly found in human stools
October 23, 2018 - Zoledronic acid increases disease-free survival in premenopausal women with HR+ early breast cancer
October 23, 2018 - Cancer survivors at risk for heart failure during, after pregnancy
October 23, 2018 - Stanford project brings health education videos to mothers in South Africa
October 23, 2018 - HIV-infected Hispanics at higher risk of developing HPV-related cancers, finds study
October 23, 2018 - Politicians hop aboard ‘Medicare-for-all’ train, destination unknown
October 23, 2018 - Study suggests rising childhood obesity rates as cause for serious hip disease in adolescents
October 23, 2018 - Study highlights existence of barriers to early clinical trial access for adolescents and young adults
October 23, 2018 - Protein sequencing technique could revolutionize biomedical research
October 23, 2018 - Canon Medical to showcase world’s first Ultra-High Resolution CT system at ASTRO 2018
October 23, 2018 - Spectrum Pharmaceuticals Announces Release of Updated Poziotinib Data From MD Anderson Phase 2 Study in Non-Small Cell Lung Cancer Patients
October 23, 2018 - Cancer stem cells use ‘normal’ genes in abnormal ways
October 23, 2018 - Bad Blood: A conversation with investigative reporter John Carreyrou | News Center
October 23, 2018 - As U.S. fertility rates collapse, finger-pointing and blame follow
October 23, 2018 - Researchers develop promising targeted strategy to treat chemo-resistant blood cancer
October 23, 2018 - Pilot clinical trial shows effectiveness of bioelectronic medicine device for lupus
October 23, 2018 - Genentech’s combination therapy improves outcome in patients with non-squamous non-small cell lung cancer
October 23, 2018 - 11th World Stroke Congress examines high stroke impact in low- and middle-income countries
October 22, 2018 - Breast cancer survival could be extended with two new drug combinations
October 22, 2018 - Researchers discover how acne-causing bacteria resist treatment
October 22, 2018 - Cancer trial shows treating the prostate with radiotherapy improves survival
October 22, 2018 - New hope for a drug to treat lymphedema symptoms
October 22, 2018 - Immune-Based Treatment Helps Fight Aggressive Breast Cancer, Study Finds
October 22, 2018 - Takeda announces positive Phase 3 ALTA-1L data in first-line therapy for advanced ALK+ NSCLC
October 22, 2018 - Paternal exercise has significant impact on child’s lifelong metabolic health
October 22, 2018 - Targeting specific genomic mutation in breast cancer improves survival
October 22, 2018 - Loss of tumor protein p53 helps cancer cells grow in hostile environment
October 22, 2018 - IDT to demonstrate CRISPR expertise at European-focused events
October 22, 2018 - Breathing through the nose improves memory consolidation
October 22, 2018 - Recreational Marijuana Now Legal in Canada
October 22, 2018 - Scientists reveal drumming helps schoolchildren diagnosed with autism
October 22, 2018 - A stage IV cancer patient discusses what it means to live well with serious illness
October 22, 2018 - In Kids with Autism, Short Questionnaire May Detect GI Disorders
October 22, 2018 - Innovative strategy opens up new avenue of treatment for anthrax infections
October 22, 2018 - Merck presents MK-1454 Phase 1 data for treatment of advanced solid tumors or lymphomas
October 22, 2018 - Aspirin may be effective in preventing blood clots after knee replacement
October 22, 2018 - Drug cocktail that increases lifespan discovered
October 22, 2018 - Gilead Sciences presents Phase 3 results of filgotinib in biologic-experienced rheumatoid arthritis at 2018 ACR/ARHP Annual Meeting
October 22, 2018 - Study shows potential positive impact of group prenatal care on birth outcomes
October 22, 2018 - Immunotherapy with pembrolizumab extends survival in metastatic or recurrent head and neck cancer
October 22, 2018 - Health Tip: Keep Ticks Away
October 22, 2018 - Obsessive-compulsive disorder – Genetics Home Reference
October 22, 2018 - Researchers find disrupted functional connectivity in cerebellum of adults with HF-ASD
October 22, 2018 - Deciphera presents Phase 1 clinical results of DCC-2618 in patients with gastrointestinal stromal tumors
Gene therapy approach could help treat mitochondrial diseases

Gene therapy approach could help treat mitochondrial diseases

image_pdfDownload PDFimage_print

Researchers have developed a genome-editing tool for the potential treatment of mitochondrial diseases: serious and often fatal conditions which affect 1 in 5,000 people.

The researchers, led by the University of Cambridge, applied an experimental gene therapy treatment in mice, and were able to successfully target and eliminate the damaged DNA in mitochondria which causes the devastating conditions.

Their results, published in the journal Nature Medicine, could provide a practical route to treating patients with these diseases and may provide a future alternative to mitochondrial replacement therapy, or ‘three-parent IVF’. This is the first time programmable genome engineering tools have been used inside a living animal, resulting in such significant modification of mitochondrial DNA.

Mitochondria are the powerhouses inside our cells, producing energy and carrying their own DNA. They are inherited from a person’s mother via the egg, but if they are damaged, it can result in a serious mitochondrial disease. For example, MELAS Syndrome is a severe multi-system disorder causing progressive loss of mental and movement abilities, which usually becomes apparent in early childhood.

There are typically about 1000 copies of mitochondrial DNA per cell, and the percentage of these that are damaged, or mutated, will determine whether a person will suffer from mitochondrial disease or not. Usually, more than 60% of the mitochondrial DNA molecules in a cell need to be mutated for the disease to emerge, and the more mutated mitochondrial DNA a person has, the more severe their disease will be. Conversely, if the percentage of mutated DNA can be reduced, the disease could potentially be treated.

Mitochondrial diseases are currently incurable, although a new IVF technique of mitochondrial transfer gives families affected by mitochondrial disease the chance of having healthy children – removing affected mitochondria from an egg or embryo and replacing them with healthy ones from a donor.

“Mitochondrial replacement therapy is a promising approach to prevent transmission of mitochondrial diseases, however, as the vast majority of mitochondrial diseases have no family history, this approach might not actually reduce the proportion of mitochondrial disease in the population,” said Dr Payam Gammage, a postdoctoral researcher in the MRC Mitochondrial Biology Unit, and the paper’s first author.

“One idea for treating these devastating diseases is to reduce the amount of mutated mitochondrial DNA by selectively destroying the mutated DNA, and allowing healthy DNA to take its place,” said Dr Michal Minczuk, also from the Medical Research Council (MRC) Mitochondrial Biology Unit, and the study’s senior author.

To test an experimental gene therapy treatment, which has so far only been tested in human cells grown in petri dishes in a lab, the researchers used a mouse model of mitochondrial disease that has the same mutation as some human patients.

The gene therapy treatment, known as the mitochondrially targeted zinc finger-nuclease, or mtZFN, recognizes and then eliminates the mutant mitochondrial DNA, based on the DNA sequence differences between healthy and mutant mitochondrial DNA. As cells generally maintain a stable number of mitochondrial DNA copies, the mutated copies that are eliminated are replaced with healthy copies, leading to a decrease in the mitochondrial mutation burden that results in improved mitochondrial function.

The treatment was delivered into the bloodstream of the mouse using a modified virus, which is then mostly taken up by heart cells. The researchers found that the treatment specifically eliminates the mutated mitochondrial DNA, and resulted in measures of heart metabolism improving.

Following on from these results, the researchers hope to take this gene therapy approach through clinical trials, in the hope of producing an effective treatment for mitochondrial diseases.

Tagged with:

About author

Related Articles