Jill Viles

Last updated

Jill Viles (born 1974) is an American writer recognized for her self-discovery of Emery-Dreifuss muscular dystrophy. [1]

Contents

Early life and education

Jill Viles was born in Des Moines, Idaho, in 1974, the eldest of five children. [2] [1] Viles' mother was a stay-at-home parent, while her father worked as an assistant U.S. attorney. Up until the age of 4, Viles exhibited typical developmental milestones. [1] However, at age 4 she began frequently tripping and falling, describing the sensation as "witches' fingers" pulling on her legs. [1] [3] [2]

Her parents took her to the Mayo Clinic, where Viles was diagnosed with a mild form of muscular dystrophy, a group of genetic diseases characterized by progressive weakness and degeneration of muscle fibers. [4] Despite her family members also exhibiting elevated creatine kinase levels, an enzyme that leaks out of damaged muscles, only Jill experienced such difficulty with walking. [4]

Despite the diagnosis, Viles described her childhood as fun and playful. [1]

By the age of 12, with the onset of puberty, Viles encountered further physical limitations, finding herself unable to ride a bike and noticing a significant thinning of her arms and legs. [5] [1]

After graduating from Roosevelt High School in Des Moines, she attended Iowa State University where she majored in genetics. [1]

Muscular dystrophy research

While studying genetics at Iowa State University, Viles dedicated her free time to reading literature on muscular dystrophy. [1] In addition to personal research, Viles secured an internship at the Human Gene Therapy Research Institute, affiliated with Iowa Methodist Medical Center. [6] It was here that Viles supplemented her understanding of molecular biology. [1]

Emery-Dreifuss muscular dystrophy

Following her sophomore year, Viles had an internship at the Whitney Research Laboratory in St. Augustine, Florida. [1] While perusing a neurology textbook, she stumbled upon an article detailing Emery-Dreifuss muscular dystrophy. [1] Struck by the resemblance of the symptoms and physical features described to those of her father, she realized the condition's association with cardiac issues—a health concern her father had been battling with. [7] [4]

Further investigation

Viles took this information to the Iowa Heart Center, where cardiologists implanted a pacemaker in her father to mitigate potential cardiac complications. [1] Following unsuccessful attempts to engage neurologists in Iowa, Viles reached out to a research laboratory in Italy that was studying four families affected by Emery-Dreifuss muscular dystrophy. [4] Impressed by her letter, the laboratory requested a blood sample from Viles for gene sequencing. [8] [4]

Four years later, in 1999, Viles received an email from the Italian laboratory confirming that her family, along with the four other families under study, had a mutation in the LMNA gene, specifically known as the lamin gene. [4] The lamin gene is responsible for making nuclear lamina, and influences how genes in the nucleus regulate growth and development, specifically fat and muscle production. [9] Viles in particular had a point mutation within the lamin gene, where a cytosine nucleotide was replaced with a guanine nucleotide. [4] This specific mutation led to the difficulties in developing muscle and fat, especially in periods of rapid growth such as puberty. [4] These results were confirmation that Viles and her family had Emery-Dreifuss muscular dystrophy. [1] [10]

Partial lipodystrophy

After news of her self-diagnosis spread, Viles was offered a summer internship at Johns Hopkins University at the age of 25. It was here that she read of another rare genetic disease, partial lipodystrophy. [4] Partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty tissue.

Upon comparing pictures of partial lipodystrophy patients, Viles speculated that she might be affected by both partial lipodystrophy and Emery-Dreifuss muscular dystrophy. [11] [4] She attended a medical conference at Hopkins where she showed photos to doctors and informed them of her belief that she had not one, but two, rare genetic mutations. However, instead of support, she encountered skepticism from some medical professionals, who dismissed her concerns as manifestations of "intern syndrome." [4] Viles continued her investigation; however, the stress of the research started to affect her mental health, and she abandoned her research. [1]

Connection with Canadian Olympic athlete, Priscilla Lopes-Schliep

After seeing a photo of a Canadian Olympic athlete by the name of Priscilla Lopes-Schliep, Viles believed she and Lopes-Schliep were among the few who had partial lipodystrophy. [12] [13] [4] [3] Priscilla Lopes-Schliep was exceptionally muscular, so much so that she often faced accusations of steroid use due to her remarkable physique in track and field. [14] In 2016, Viles reached out to David Epstein, journalist and author of "The Sports Gene: Inside the Science of Extraordinary Athletic Performance,"after his appearance on Good Morning America in 2016. [4] [3] Epstein became intrigued by Viles' research and agreed to help connect her with Lopes-Schliep. [4]

Despite Lopes-Schliep boasting greater muscle mass, both exhibited comparable definition, owing to minimal body fat. [15] [4] Lopes-Schliep then enlisted the expertise of Dr. Abhimanyu Garg, an expert in lipodystrophy, who conducted comprehensive genetic testing and a thorough evaluation for lipodystrophy at the University of Texas Southwestern Medical Center. [16] [17] [4]

The test results confirmed Viles' intuition. [18] [4] She and Lopes-Schliep shared a genetic link, both were diagnosed with the same subtype of partial lipodystrophy known as Dunnigan-type. [19] Priscilla's nuclear membrane exhibited invagination and a non-circular shape, while Viles' variant in the lamin gene resulted in a rounded oval nucleus with highly disorganized genetic material in the cell cytoplasm. [4]

Personal life

Viles married her husband in 2005. [4] The couple share a son, who, notably, does not inherit any of the gene mutations associated with Viles' medical conditions. [1]

Writing experience

Aside from her research in the science field, Jill Viles also spends time writing books and articles to raise awareness about her condition and share her journey. Viles earned her master’s degree in creative writing from Iowa State University, her writing has appeared in Johns Hopkins Magazine, and her essay, “Loss of Control”, was recognized in the 88th Annual Writer’s Digest Writing Competition. [20] [1]

Related Research Articles

<span class="mw-page-title-main">Muscular dystrophy</span> Diseases in which skeletal muscle breaks down over time

Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time. The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Some types are also associated with problems in other organs.

<span class="mw-page-title-main">Limb–girdle muscular dystrophy</span> Medical condition

Limb–girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of clinical characteristics. It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. LGMD usually has an autosomal pattern of inheritance. It currently has no known cure or treatment.

<span class="mw-page-title-main">Duchenne muscular dystrophy</span> Type of muscular dystrophy

Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. The onset of muscle weakness typically begins around age four, with rapid progression. Initially, muscle loss occurs in the thighs and pelvis, extending to the arms, which can lead to difficulties in standing up. By the age of 12, most individuals with Duchenne muscular dystrophy are unable to walk. Affected muscles may appear larger due to an increase in fat content, and scoliosis is common. Some individuals may experience intellectual disability, and females carrying a single copy of the mutated gene may show mild symptoms.

<span class="mw-page-title-main">Becker muscular dystrophy</span> Genetic muscle disorder

Becker muscular dystrophy (BMD) is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy. The cause is mutations and deletions in any of the 79 exons encoding the large dystrophin protein, essential for maintaining the muscle fiber's cell membrane integrity. Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the dystrophin gene, however the hallmark of Becker is milder in-frame deletions. and hence has a milder course, with patients maintaining ambulation till 50–60 years if detected early.

<span class="mw-page-title-main">Oculopharyngeal muscular dystrophy</span> Medical condition

Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. It can be autosomal dominant neuromuscular disease or autosomal recessive. The most common inheritance of OPMD is autosomal dominant, which means only one copy of the mutated gene needs to be present in each cell. Children of an affected parent have a 50% chance of inheriting the mutant gene.

<span class="mw-page-title-main">Fukuyama congenital muscular dystrophy</span> Medical condition

Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly described in Japan but also identified in Turkish and Ashkenazi Jewish patients; fifteen cases were first described on 1960 by Dr. Yukio Fukuyama.

<span class="mw-page-title-main">Facioscapulohumeral muscular dystrophy</span> Muscular degenerative disease of the face, shoulder blades, and upper arms

Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, those that position the scapula, and those overlying the humerus bone of the upper arm. These areas can be spared, and muscles of other areas usually are affected, especially those of the chest, abdomen, spine, and shin. Almost any skeletal muscle can be affected in advanced disease. Abnormally positioned, termed 'winged', scapulas are common, as is the inability to lift the foot, known as foot drop. The two sides of the body are often affected unequally. Weakness typically manifests at ages 15–30 years. FSHD can also cause hearing loss and blood vessel abnormalities at the back of the eye.

<span class="mw-page-title-main">Congenital muscular dystrophy</span> Medical condition

Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.

<span class="mw-page-title-main">Emery–Dreifuss muscular dystrophy</span> Medical condition

Emery–Dreifuss muscular dystrophy (EDMD) is a type of muscular dystrophy, a group of heritable diseases that cause progressive impairment of muscles. EDMD affects muscles used for movement, causing atrophy, weakness and contractures. It almost always affects the heart, causing abnormal rhythms, heart failure, or sudden cardiac death. It is rare, affecting 0.39 per 100,000 people. It is named after Alan Eglin H. Emery and Fritz E. Dreifuss.

<span class="mw-page-title-main">Emerin</span> Protein-coding gene in humans

Emerin is a protein that in humans is encoded by the EMD gene, also known as the STA gene. Emerin, together with LEMD3, is a LEM domain-containing integral protein of the inner nuclear membrane in vertebrates. Emerin is highly expressed in cardiac and skeletal muscle. In cardiac muscle, emerin localizes to adherens junctions within intercalated discs where it appears to function in mechanotransduction of cellular strain and in beta-catenin signaling. Mutations in emerin cause X-linked recessive Emery–Dreifuss muscular dystrophy, cardiac conduction abnormalities and dilated cardiomyopathy.

<span class="mw-page-title-main">Laminopathy</span> Medical condition

Laminopathies are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. Since the first reports of laminopathies in the late 1990s, increased research efforts have started to uncover the vital role of nuclear envelope proteins in cell and tissue integrity in animals. Laminopathies are a group of degenerative diseases, other disorders associated with inner nuclear membrane proteins are known as nuclear envelopathies.

<span class="mw-page-title-main">Bethlem myopathy</span> Medical condition

Bethlem myopathy is predominantly an autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy. There are two types of Bethlem myopathy, based on which type of collagen is affected.

<span class="mw-page-title-main">Prelamin-A/C</span> Filament protein

Prelamin-A/C, or lamin A/C is a protein that in humans is encoded by the LMNA gene. Lamin A/C belongs to the lamin family of proteins.

<span class="mw-page-title-main">Priscilla Lopes-Schliep</span> Canadian hurdler

Priscilla Lopes-Schliep is a Canadian retired hurdler in track and field athletic competition. She was born in Scarborough, Ontario, and currently lives in Whitby.

<span class="mw-page-title-main">Dunnigan familial partial lipodystrophy</span> Medical condition

Dunnigan-type familial partial lipodystrophy, also known as FPLD Type II and abbreviated as (FPLD2), is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities, trunk, and gluteal region. FPLD recapitulates the main metabolic attributes of the insulin resistance syndrome, including central obesity, hyperinsulinemia, glucose intolerance and diabetes usually type 2, dyslipidemia, hypertension, and early endpoints of atherosclerosis. It can also result in hepatic steatosis. FPLD results from mutations in LMNA gene, which is the gene that encodes nuclear lamins A and C. The condition is named after Scottish doctor Matthew Dunnigan, who pioneered early study into the disorder.

Familial partial lipodystrophy, also known as Köbberling–Dunnigan syndrome, is a rare genetic metabolic condition characterized by the loss of subcutaneous fat.

<span class="mw-page-title-main">Ullrich congenital muscular dystrophy</span> Medical condition

Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy. There are two forms: UCMD1 and UCMD2.

Veena Krishnaji Parnaik is an Indian cell biologist and the current Chief Scientist at the Centre for Cellular and Molecular Biology. She obtained her Masters in Science in medicinal biochemistry from the University of Mumbai and received her PhD from Ohio State University before moving back to India to work at the CCMB. Her research is focused on understanding the functional role of the nuclear lamina and how defects in it may lead to disorders such as progeria and muscular dystrophy.

<span class="mw-page-title-main">LMNA-related congenital muscular dystrophy</span> Medical condition

Lamin A/C congenital muscular dystrophy (CMD) is a disease that it is included in laminopathies. Laminopathies are caused, among other mutations, to mutations in LMNA, a gene that synthesizes lamins A and C.

References

  1. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 "Episode 27: Jill Viles". Conjugate: Illustration and Science Blog.
  2. 1 2 "Episode 27: Jill Viles".
  3. 1 2 3 reporter, Donovan Vincent News (2016-01-28). "The amazing story of Priscilla Lopes-Schliep and the Iowa mom". Toronto Star. Retrieved 2024-04-24.
  4. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 Epstein, David. "The DIY Scientist, the Olympian, and the Mutated Gene".
  5. ↑ "A story until a woman suffering from an intractable disease of muscle weakness reads a paper on her own and discovers a genetic mutation common to the Olympic track and field bronze medalist". 14 January 2023.
  6. ↑ "Episode 27: Jill Viles".
  7. ↑ "The mom and the hurdler: an update". 7 October 2019.
  8. ↑ "Congenica Helps Family with Emery Dreifuss Muscular Dystrophy Using Genome-Based Technology". 14 March 2016.
  9. ↑ "Congenica Helps Family with Emery Dreifuss Muscular Dystrophy Using Genome-Based Technology". 14 March 2016.
  10. ↑ "577: Something Only I Can See". 14 December 2017.
  11. ↑ "Woman diagnoses own rare muscle disease, links".
  12. ↑ "The amazing story of Priscilla Lopes-Schliep and the Iowa". Toronto Star . 28 January 2016.
  13. ↑ "How an Iowa mom changed genetic research and an Olympic athlete's life". The Des Moines Register .
  14. ↑ "You Were Wrong - Priscilla Lopes-Schliep is Clean". 21 January 2016.
  15. ↑ ""The DIY Scientist, the Olympian, and the Mutated Gene"". 7 February 2023.
  16. ↑ "Discovering the Missing Link Between my Rare DIsease and ..." YouTube .
  17. ↑ "Rare disease or rare success: a tale of two genomes". 4 October 2023.
  18. ↑ "Rethinking Genetic Dichotomy". TEDxDrakeU.
  19. ↑ Belo, Sandra Patrícia Mota; Magalhães, Ângela Celeste; Freitas, Paula; Carvalho, Davide Maurício (2015). "Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report". NIH National Library of Medicine. 8: 140. doi: 10.1186/s13104-015-1065-4 . PMC   4403845 . PMID   25885670.
  20. ↑ "Jill Viles DIYScientist".
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.