(Note: For current advancements in Alpers research and treatments, please see our Facebook news feed at the bottom of this page.)
Thank you for visiting Alpers Awareness/Veronica’s Voyage. This site serves to raise awareness of Alpers Syndrome – and celebrate the life of our beloved Veronica – through news, events, and other resources. If you are reading this because of a loved one, please know that you are not alone. We are here to help you in any way we can. Please refer to What Do I Do Now? for help and check back often for updates. You may follow our sweet Veronica’s Voyage on CaringBridge.org and on our Veronica’s Voyage page. You may also follow us on Facebook.
Alpers Syndrome, also known as Alpers-Huttenlocher Syndrome, is genetically inherited and affects the production of energy on a cellular level. Sadly, there is currently no treatment or cure. It is one of many mitochondrial illnesses and can be diagnosed with a DNA test of the POLG1 gene. Parents of children with Alpers do not develop Alpers because they carry a dominant, healthy POLG1 gene. However, they also possess a mutation of the gene which can be unknowingly passed on to their child. Alpers occurs only in children who receive the recessive gene from both parents. It is believed the birth rate of children born with Alpers is 1 in 50,000. 1 in 110 adults in the United States are recessive carriers. These numbers are growing as Alpers is more properly diagnosed. For parents who both have the recessive gene, there is a 1 in 4 chance of a child having Alpers. It is our hope and goal, through education, reduced-cost prenatal genetic testing, and research into alternative methods such as identifying markers in paternal blood tests, that no other child or family need endure the same horrific journey.
Please read more about Alpers on our About Alpers and Resources pages.
Alpers Awareness on Facebook
www.sciencedirect.com
Current Insights into the Potential of Gene Therapy to Treat Rare Mitochondrial Diseases
link.springer.com
Mitochondrial disorders represent a rare category of diseases that arise from abnormalities in essential proteins necessary for the proper functioning and maintenance of mitochondria. These mutations ...
www.nature.com
The human mitochondrial DNA polymerase gamma is a holoenzyme, involved in mitochondrial DNA (mtDNA) replication and maintenance, composed of a catalytic subunit (POLG) and a dimeric accessory subunit ...
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease
www.mdpi.com
Mitochondrial diseases (MDs) are a heterogeneous group of disorders resulting from abnormal mitochondrial function. Currently, there is no causal treatment for MDs. The aim of the study was to assess ...
Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome
www.frontiersin.org
Nucleoside therapy is a promising treatment. Patients with mitochondrial DNA depletion syndrome (MDS), due to thymidine kinase 2 mutations, are supplemented with deoxy-pyrimidines. Previous studies ha...
