Back in the 1980s, after I was diagnosed with multiple sclerosis, I needed to discover, for my own satisfaction, the reason why. I quickly discovered that wouldn't be easy. Ever since 1873 when MS was recognized in England and featured in medical textbooks, scientists have been asking the same question, but where to start? I read that MS is an autoimmune disease in which the body's immune response attacks a person's central nervous system. So my first port-of-call browsing the Internet was AARDA - The American Autoimmune Related Diseases Association.
My grandmother, my aunt, my father and many members of my great-grandfather's family suffered from ankylosing spondylitis - a bone disease causing spinal curvature. It was so prevalent among family members that it gained the epithet, 'Newton back'. John Newton, born 1831 in Leeds, moved to Sheffield around 1850. My great-grandfather probably carried a defective autosomal gene affecting conversion of vitamin A into healthy bones. John Newton's eldest son, Frederick, fathered an illegitamate child, Percy, in 1898 by Emily Allsop. Although I met him only once, I remember my father's cousin, (he took his mother's name), was almost bent double with 'bamboo spine'. My father always blamed the curvature of his own spine on a childhood injury, falling on his back off a bridge into Porter Brook, but this is unlikely.
In 1993 I had been admitted to Royal Brompton Hospital, London diagnosed with a HOCoM is inherited as an autosomal dominant trait attributed to mutations in one of a number of genes that encode for one of the sarcomere proteins. About 60% of patients diagnosed with HoCOM will have a mutation identified in at least 1 of 9 sarcometric genes. Approximately 45% of these mutations occur in the ß myosin heavy chain gene on chromosome 14 q11.2-3, while approximately 35% involve the cardiac myosin binding protein C-gene.
Since it is typically an autosomal dominant trait, children of a parent with HOCoM have a 50% chance of inheriting the disease-causing mutation for this reason our three children had to be checked. Whenever a mutation is identified through genetic testing, family-specific genetic testing can be used to identify relatives at-risk. In individuals without a family history of HOCoM, the most common cause of the disease is a de novo mutation of the gene that produces the ß-myosin heavy-chain. An insertion /deletion polymorphism in the gene encoding for angiotensin converting enzyme (ACE) alters the clinical phenotype of the disease. The deletion/deletion genotype of ACE is associated with more marked hypertrophy of the left ventricle and may be associated with higher risk of an adverse outcome.
Five years later a cardiac septal ablation (ASA) – a new procedure introduced in 1994 – was successfully performed by the originator, Dr Ulrich Sigwart, the "Sigwart procedure", at Royal Brompton Hospital, London to reduce the thickening septum. My father's niece, Doreen Wilson, died of rheumatic fever aged 35. From another, different, autoimmune condition, At the autopsy the characteristic findings (thickened mitral valve, thickened chordae tendineae (hypertrophied left ventricular myocardium) were found.
Returning to MS which is caused by plaques on the myelin sheath around nerve fibres. This damage is caused when the body's defence mechanism (macrophages) attack myelin cells. But WHY? After all these years why haven't doctors and researchers found the answer to that question. Then I read the the following theory from two doctors working in Florida, USA:
Sheldon F. Gottlieb PhD Ref: 1-4
So it appears that the elusive "environmental factor", is probably caused by a damaged vascular system unable to deliver suffient oxygen, leading to inflammation, myelin damage, and plaques but Dr. Pablo Villoslada, Institut Biomedical Research, Barcelona, adds a word of caution:
"Yes, the vascular theory was always there. But it seems that MS is more complex than that, with inflammation, degeneration and ischemia... but we are going to beat it for sure!"As the cause of HCM is genetic, it seems logical to me that the underlying cause of MS must be genetic too. Read: "The Viking Hypothesis" and the genetic link between MS and Scotland which has a much higher rate of MS than England, Wales or anywhere else in the world.
Since writing developments in this area are moving on apace. Read about Chronic Cerebrospinal
Venous Insufficiency (CCSVI) and the work of Dr Paolo Zamboni, MD University of Ferrara, Italy on my next page