Posts by: Jose Marques Lopes, PhD

Jose Marques Lopes, PhD

April 12, 2019April 12, 2019

Clinicians Should Consider Different Wording in Cases of Unconfirmed Mitochondrial Disease, Study Suggests

News

Clinicians may be able to avoid unnecessary fear and inappropriate care by categorizing patients as “diagnosis uncertain” instead of “possible” mitochondrial disease when suspected cases have not yet been ... Read more

November 30, 2018November 30, 2018

Mitochondrial DNA from Fathers Could Lead to New Therapies, Study Suggests

News

A new study found rare cases of mitochondrial DNA (mtDNA) being passed down from fathers in three unrelated families. The surprising findings could lead to novel treatments for inherited ... Read more

November 16, 2018November 16, 2018

Correcting Precise RNA Alterations May Restore Protein Production in MERRF, Study Suggests

News

Restoring a missing transfer RNA (tRNA) modification improved protein production and stability in mitochondria — the cell’s power plants — in a patient with myoclonic epilepsy with ragged red fibers ... Read more

May 18, 2018May 18, 2018

Mitochondrial Disease Treatment Candidate KH176 Shows Potential, Study Finds

News

Khondrion’s mitochondrial disease treatment candidate KH176 has potential to be effective in a broad range of disorders, a new study reports. The research, “KH176 Safeguards Mitochondrial Diseased Cells from ... Read more

May 11, 2018May 11, 2018

Multiple Consultations, Tests and Misdiagnoses Mark Mitochondrial Patients ‘Odyssey,’ Survey Finds

News

People with mitochondrial disease typically can visit on average eight different doctors, and undergo multiple tests before finally getting an accurate diagnosis, a patients’ survey reports. The study reporting ... Read more

April 20, 2018April 20, 2018

#AAN2018 – Mutation in USMG5 Gene Causes Leigh Syndrome, Study Shows

News

Researchers found that a mutation in the USMG5 gene causes Leigh syndrome and deficient energy production in cells. This is the first evidence linking alterations in this gene to ... Read more

April 13, 2018April 13, 2018

Some Antioxidants Show Benefits in Models of Mitochondrial Disease, Study Reports

News

The antioxidants vitamin E and N-acetylcysteine (NAC) prolonged survival and protected against brain damage in models of mitochondrial disease, a study shows. The compounds will now be tested in clinical ... Read more

March 23, 2018March 23, 2018

Abnormal Protein Interaction Impairs Mitochondrial Function, May Lead to Neurodegenerative Disorders, Study Suggests

News

The normal interaction between two key members of the same mitochondrial protein family is essential to maintain proper energy production and prevent oxidative damage associated with neurodegenerative diseases, Wayne ... Read more

March 7, 2018

Phase 2 Trial Finds Possible Benefits of Omaveloxolone to Mitochondrial Function at Set Dose

News

A potential oral treatment of mitochondrial myopathies called omaveloxolone (RTA 408) appears to improve the mitochondrial function of patients at an optimal dose of 160 mg, top-line data from a ... Read more

January 17, 2018

Study Shows How DNA Mutations in Healthy Mothers May Lead to Severe Mitochondrial Disease in Children

News

A new U.K. study shows why mitochondrial disease can occur in previously healthy families. The research, “Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos,” ... Read more

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