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Is ME/CFS Inherited? SPRING 2018 All in the Family: Is ME/CFS Inherited? The quest to understand We’ve long understood that physical cost. A task that was science fction characteristics are be inherited and just a few short years ago. In the genetics and inherited that these same genes also contrib- near future, gene editing will allow traits is possibly one ute to our overall health and well- us to correct ‘faulty’ genes associ- ness. This includes the development ated with a range of human genetic of the oldest and most and progression of various diseases. disorders. exciting scientifc Today, we know that genetic muta- tions can cause complex diseases, When discussing a complex disease endeavors. It is also a from diabetes to cancer, and that like ME/CFS, particularly a sensi- subject within ME/CFS genetic ‘predisposition’ can be a risk tive topic like inherited traits, it factor that shapes our health. helps to be mindful of at least three that remains poorly broad categories: classical genetics, understood. Our understanding of genetics has epigenetics, and pathogenic-host grown substantially. We can now interactions. » to page 4 Since people with ME/CFS can be read, map, interpret, and modify found within the same family more the building blocks that make up often than random association our DNA. Scientifc advances now INSIDE would dictate, is there a possible allow us to identify genetic irregu- 2 SMCI This Quarter: A Summary of genetic component to ME/CFS? larities quickly and for a reasonable Our Work 5 SMCI Welcomes Two New Members to Its Board of Directors 6 What’s in a Defnition? Finding a Common Language for ME/CFS 8 PEM: It’s Time to Retire the Term 9 Dr. Maureen Hanson: From Plant Biology to ME/CFS Champion 12 Advocacy in Action: 44 Members of Congress Unite for ME/CFS Funding 14 M.E. Too? Can the Women’s Health Equity Movement Bring Attention to ME/CFS? 16 Patient Voices 17 SMCI Answers Reader Questions 18 Your Support Fuels Our Efforts 19 Refections from Our President Carol Head COVER STORY » from page 1 All in the Family: Is ME/CFS Inherited? (cont’d) CLASSICAL GENETICS is the study of and genetic relationship are risk fac- PATHOGENIC-HOST INTERACTIONS genetics that hinges on how differ- tors. This doesn’t mean that either The interplay between humans and ent genetic traits are passed down one is necessarily a cause. A 2005 microbes and consequence for our from parents to their offspring. study by Underhill & Gorman found health has historically been a major Our genes contain instructions for about 20% of patients with sporadic driver of medicine and research— the building and functioning of ME/CFS reported having a family and this now extends to the level our body. The collection of genes member with ME/CFS. In 18.3% of of our DNA. Genetic variations play known as the genome is grouped these patients, the affected relatives a large role in immunology and into structures called chromo- were genetically related and 70% have been associated with suscep- somes. Most humans have 23 pairs of the genetically related family tibility to various disease states. of chromosomes and half of the members were not living with the This variability is thought to be the genes are maternally or paternally patient. Much more work is needed results of long-term interactions derived. This is in addition to an- to better understand these reports, between hosts and pathogens. In other set of genetic material in the including larger groups and more many cases, pathogens hijack our mitochondria (known as the mito- robust methodologies. cellular machinery for their own chondrial genome) that is inherited survival. These pathogens can alter only from the mother. Variations in EPIGENETICS is a research feld that a range of critical functions, includ- traits commonly seen in the popu- looks at changes in gene function ing immunity, metabolic regulation, lation, such as hair color, arise from and expression that are regulated and neurological function. Numer- random mutations in the DNA code by external factors. These changes ous viral and bacterial factors are (polymorphisms). Other mutations, do not involve alterations to the associated with ME/CFS and could most often those that are rare, can DNA sequence itself. For instance, be triggers—especially for individu- be less benign and cause diseases. DNA methylation—which entails als with genetic predispositions. In ME/CFS, we have yet to identify the addition of a methyl group to a mutation in our genome of mito- DNA and often turns a gene to the There are indications that differen- chondrial DNA that is responsible “off” position—is widely recognized tial gene expression could underlie for the disease—like other defni- as one epigenetic mechanism of ME/CFS, which would explain some tive mutations that cause diseases biological importance. DNA meth- of the clustering patterns we see in such as cancer. However, a lack of ylation relates to numerous cellular families. But, much more research evidence does not mean we can say processes, and abnormal patterns needs to be done. Efforts are cur- it does not exist. It is worth noting, of methylation have been linked to rently underway to lay the founda- sequencing of the mitochondrial many disorders. In ME/CFS, there tion for stronger research. The de- DNA in ME/CFS patients by a num- is growing evidence that epigenetic velopment of integrative databases, ber of research teams has not re- patterns are very different between like the upcoming SMCI Registry & vealed any characterized mutations patients and matched healthy con- BioBank, will allow for the collection that are associated with a metabolic trols, indicating that gene function of a much wider range of data— disorder. However, they have shown and expression have been altered including genetic datasets. The some associated variations that did by some external factor in ME/CFS Common Data Elements project, a not rise to the level of signifcance. patients. national effort to develop standards for data elements and standardize Studies on the potential underlying relevant health information in ME/ genetic implications in ME/CFS have CFS, will strengthen comparative shown that both household contact analysis. » to page 5 4 The Solve ME/CFS Chronicle NEWS AND UPDATES SMCI Welcomes Two New Members to Its Board of Directors We are pleased to introduce our She received a BS from Tufts University and a Master’s newest board members: Barbara in Health Policy and Management from Harvard Uni- versity. She completed Board of Directors training at Lubash and Andrea Bankoski. Stanford Directors College. Barbara has close family members and friends strug- Barbara Lubash is a Director and Advisor for corpo- gling daily with the challenges of ME/CFS. rate and non-proft boards. She serves on boards of Advanced ICU Care and RedBrick Health. She is an Ad- Andrea Bankoski has visor to Clariful, Inc. and a worked in public health member of Partners Health- leadership and clinical Care Innovation Advisory research for the past Board. 17 years. She currently serves as the Assistant In her prior careers as an Data Manager at the executive and later as a Carolina Population venture capitalist, Barbara Center at the University led and advised innova- of North Carolina at tive healthcare and service Chapel Hill, where she manages the data for the National organizations. She was Longitudinal Study of Adolescent to Adult Health. Before Co-founder and Managing Director of Versant Ventures her role at UNC, Andrea was the Chief Data Officer at the and before that a Venture Partner at Crosspoint Ven- Maryland Department of Health. Andrea is also a person tures. Prior corporate boards include CodeRyte (natural with ME/CFS. She earned her Bachelor of Arts, cum language processing), Cogent Healthcare, Concerto laude, from the Pennsylvania State University, a Graduate HealthCare, Titan Health, and Vantage Oncology. She Certfcate in Biostatstcs from George Mason Universi- was Board Chair of the California HealthCare Founda- ty, and a Master of Public Health in Epidemiology from tion where she earlier led the development of the Foun- George Mason University. n dation’s PRI Impact Investment strategy (Innovation Fund). She was a senior executive at PacifCare (health plan), and PHCS (a PPO), and held management roles at Hewlett Packard and the Harvard Community Health Plan (now Harvard Pilgrim). » from page 4 All in the Family: Is ME/CFS Inherited? (cont’d) In short, the data and understand- ME/CFS, but doesn’t prove it either. ing of ME/CFS we have at this time There still hasn’t been enough re- does not exclude the possibility of a search to know for sure. n genetic contribution to the cause of www.SolveCFS.org 5.
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