Multiple Sclerosis

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Transcript of Multiple Sclerosis

Multiple Sclerosis(MS)Presented by MANCHALU SRINIVAS 11408024 B.Tech Genetic Engineering VII Semester

Also called as





The name..

Sclerosis Presence

means scars/plaques/lensions.

of many scars in white matter of brain & spinal card of Myelin sheath.

Biology of MSAttacks

on Central Nervous System(CNS).


and Spinal cord are targeted.


of plaques on Myelin sheath leads to damage of tissue.Leads

to loss of nerve impulse.

BASICALLY IT IS A AUTOIMMUNE DISEASEAutoimmune diseases arise from an overactive immune response of the body against substances and tissues normally

present in the body. In other words, the body actually attacks itsown cells. The immune system mistakes some part of the body as a pathogen and attacks it. This may be restricted to certain organs (e.g. in autoimmune thyroiditis) or involve a particular tissue in different places The treatment of autoimmune diseases is typical with

immunosuppressionmedication which decreases the immuneresponse.


Jean Martin Charcot(1825 - 1893)

Decsribed scientifically, Documented first in 1868 and noticed & named as presence of many scars in CNS.



Treated first patient Nanny his former, who was suffering with MS.


V.B. Dolgopol in 1938

Described a case of optic neuritis, caused by severe demyelination and attributed it to Devic's Syndrone. This syndrone was considered to be a subclass of Multiple Sclerosis during this time period.Merck

Manual - 16'th Edition - 1992

States: "Plaques or islands of demyelination along with destruction of both oligodendroglia and perivascular inflammation are disseminated through the CNS, primarily in the white matter, with a predilection for the lateral and posterior column (esp. in the cervical and dorsal regions), the optic nerves and periventricular areas.

Famous people triggered by MSChrissy Amphlett - American lead singer. Nicky Broyd - BBC Radio Journalist. Luca Coscione - Italian Politician. Betty Cuthbert - Olympic Gold Medallist,

Sprinting from Austrailia. Christian Johann Heinrich Heine - German poet (1797-1856) diagnosed with MS.

MS involved in moviesGURU

(film in 2007) by Mani Ratnam

Character Meenu by Vidya Balan


for One- A Play About Multiple Sclerosis

about a woman who has to give up her career as a violinist because of multiple sclerosis. The play is a series of scenes of the woman and her therapist as she struggles to remake herself after multiple sclerosis.

PrevalenceMostly Rarely Mostly

affected age 20-40. before 12 and after 55. women's are affected than men and ration is 2:1. Approximately one third of a million Americans. And every week some 200 people are diagnosed with the disease. More than one person an hour. Across the world, about 2.5 million people have the disease.


Multiple Sclerosis in India is known to be different from West .

MS in India has Optico-spinal phenotype (as generally reported in Asian population). Which means that the attacks are mostly confined to optic nerve and spinal cord.

In India alone, there are 40,000 to 50,000 people who are affected with Multiple Sclerosis.

Neurologists state that the cases reported are much more than what used to be a decade ago. More cases have been observed in North-west India.

Causes of MSGenetics Environmental




believe that multiple sclerosis may in part be inherited (genetics contribute to the increased risk of MS seen in family members).But

a number of genetic variations have been shown to increase the risk of developing the disease.There

are specific genes linked with MS.

CONTD.. Differences in the human leukocyte antigen (HLA) systema group of genes in chromosome 6 serves as the major histocompatibility complex (MHC) in humans increase the probability of suffering MS.


most consistent finding is the association between multiple sclerosis and alleles of the MHC are as DR15 and DQ6. Other loci have shown a protective effect, such as HLA-C554 and HLA-DRB1 11. The risk of acquiring MS is higher in relatives of a person with the disease than in the general population, especially in the case of siblings, parents, and children.

Family StudiesUp to 19% of patients have an affected relative.Monozygotic (identical) twins Dizygotic (non-identical) twins Child of parent with MS Sibling of person with MS

25 30% 3 4.5% 1.9% 0.9%


study published in the New England Journal of Medicine in August 2007 found a new genetic risk factor for multiple sclerosis (MS). The study shows that people who have certain variations or mutations of two different genes (IL7RA and IL2RA) are more likely to have MS than people without these mutations. IZ7RA

and IL2RA are proteins that guide the actions of one type of immune cell (T cell). As genes control how proteins are made in the body, changes in protein type represent a difference in genetics.


MS-related protein may contribute to MS by guiding those immune cells to attack the nervous system, which leads to demyelination and lesions on the brain and spinal cord.Interestingly,

IL2R mutations have been associated with type 1 diabetes and Graves disease, also autoimmune disorders.

ENVIRONMENTAL FACTORSSunlight MS is more common in people who live farther from the equator, although many exceptions exist.

Decreased sunlight exposure has been linked with a higher risk of MS.Decreased vitamin D production and intake has been the main biological mechanism used to explain the higher risk among those less exposed to sun.


also be a risk factor although evidence is weak. Smoking has also been shown to be an independent risk factor for developing MS.Association

with occupational exposures and toxinsmainly solventshas been evaluated, but no clear conclusions have been reached.Vaccinations

were also considered as causal factors for the disease; however, most studies show no association between MS and vaccines.


other possible risk factors, such as diet and hormone intake, have been investigated.Low

levels of uric acid have been found in MS patients as compared to normal individuals.


microbes have been proposed as potential infectious triggers of MS, but none have been substantiated.Different

hypotheses have elaborated on the mechanism by which this may occur.

Hygiene hypothesis

Exposure to several infectious agents early in life is protective against MS, the disease being a response to a later encounter with such agents.

Prevalence hypothesis

The disease is due to a pathogen more common in regions of high MS prevalence. This pathogen is very common, causing in most individuals an asymptomatic persistent infection.

CONTD. Evidence for viruses as a cause includes the presence of oligoclonal bands in the brain and cerebrospinal fluid of most patients, the association of several viruses with human demyelination encephalomyelitis, and induction of demyelination in animals through viral infection. Human herpes viruses are a candidate group of viruses linked to MS. Individuals who have never been infected by the Epstein-Barr virus have a reduced risk of having the disease, and those infected as young adults have a greater risk than those who had it at a younger age.

Multiple Sclerosis Clinical SubtypesRelapsing-remitting Secondary-progressive



Disability Primary-progressive Progressive-relapsing


Time DisabilityLublin FD et al. Neurology. 1996;46:907-911.

Time Disability


DAIGNOSTICSLumbar Puncture

Also called a spinal tap. This test requires that a small amount of cerebrospinal fluid(CSF) be taken from your spinal column via a needle that is inserted between your vertebrae.

The doctor will send the fluid for evaluation, looking for the presence of oligoclonal bands (an increased number of certain antibodies) an indicator of increased immune activity in the spinal fluid.

Diagnostic Criteria

There are two basic rules for diagnosing

MS:The person must have had at leasttwo relapses (an episode where symptoms were present). These episodes must have been separated by at least one month.

There must be more than one lesion on the brain or spinal cord.

Negative: You dont have MS. It is possible forthe doctor to give this diagnosis only when another definite diagnosis is made that can account for your symptoms.

Possible: This means that you may havesymptoms that look like MS, but your tests are normal. No other diagnosis which accounts for the symptoms has been confirmed.

Probable: Many people fall into this category when they arefirst seen by a neurologist. You may have symptoms that look like MS and have had two separate episodes separated by at least a month, but normal findings on an MRI. You could also have an MRI that showed only one lesion in your brain or spine. In this case, your doctor will probably recommend repeating the MRI after a certain period of time (for instance, 3 months) to see if any other lesions appear.

Definite: You have had at least two attacks, separated in time, plus at least two areas of demyelination

Magnetic Resonance Imaging (MRI) ScanMRIs use magnetic waves to produce images of the brain

and spinal cord.If MS is suspect