ISSUE 05 SEPTEMBER 2011

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National Research Update ALS Association-Funded Research Identifies New Genetic

Mutation: the Most Common Cause of FTD and ALS Ac-

counting for as Much as One Third of All Familial ALS

21 September, 2011. Two independent studies, both funded by

The ALS Association, have found a genetic abnormality that,

according to researchers, is the most common cause of Amyotro-

phic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

As reported in the recent online issue of the scientific journal

Neuron, an unusual mutation was discovered,

where a short DNA sequence is repeated many

more times as compared to healthy individuals.

Using next generation sequencing in a study led

by Bryan J. Traynor, M.D., Laboratory of Neu-

rogenetics, National Institute on Aging, the team

identified a GGGGCC hexanucleotide repeat

within the non-coding region of a gene on chro-

mosome 9p21. This repeat accounts for nearly 50% of familial

ALS cases in Finland and more than a third of familial cases in

other European populations.

The identification of the same genetic abnormality was independ-

ently made by a group at Mayo Clinic in Jacksonville, Florida led

by Rosa Rademakers, Ph.D. and published in the same journal.

The repeat of C and G (two of the four nucleotides that make up

the genetic code) was found in a non-coding region of a gene

called C9ORF72, which has no known function and its role in

disease remains a mystery.

“We believe that when the defective gene is transcribed into a

messenger RNA molecule, the expanded repeat section causes the

RNA to bind tightly to certain proteins, forming clumps within

the brain cells,” according to Dr. Rademakers. “By binding these

proteins, the abnormal RNA may prevent these proteins from

carrying out their normal functions in the cell.”

The identification of the genetic lesion on the chromosome 9p21

locus marks a major milestone in ALS research. Several studies

have led to the identification of this region linked to chromosome

9p21 including recent genome-wide association (GWA) studies

(visit http://www.alsa.org/news/archive/genome-study-identifies-

link.html to read a report).

Investigators worldwide have been committed to identifying the

gene alteration, and until now it had remained elusive. This hex-

anucleotide repeat was identified using state of the art next-

generation sequencing technology. “The repeat expansion was

highly associated with ALS and FTD in the Finnish population,”

said Dr. Traynor.

“Since all routine methods of genetic analysis had failed to find

the genetic defect in this region, we suspected the defect could be

a rare DNA repeat expansion,” said lead investigator Mariely

DeJesus-Hernandez from the Mayo Clinic-led research team.

This team found an area of DNA that in healthy individuals is

normally repeated only 2 to 23 times, but in ALS or FTD patients

is repeated 700-1,600 times. These changes were found in almost

12 percent of familial FTD and more than 23 percent of familial

ALS samples studied at Mayo Clinic.

The defect is also the strongest genetic risk factor found to date

for the more common, non-inherited, sporadic forms of these dis-

eases. It was found in 3 percent of sporadic FTD and 4 percent of

sporadic ALS samples in Mayo Clinic’s large clinical patient se-

ries.

“This finding has the potential to lead to

significant insights into how both of

these neurodegenerative diseases de-

velop, and may give us much needed

leads into new ways to treat our pa-

tients,” said Senior Investigator Rosa

Rademakers, a neuroscientist at the

Mayo Clinic campus in Florida.

The repeat expansion is more than twice

as common as the SOD1 gene in familial ALS and four times as

common as TDP43, FUS, VCP combined. The identification of

this repeat and the rapid, reliable method of screening individuals

for repeat expansion may have immediate utility by allowing

early identification of ALS patients at risk of cognitive impair-

ment and FTD cases at risk of progressive paralysis.

In the long term, the identification of the genetic lesions underly-

ing the chromosome 9p21 ALS-FTD together with the high fre-

quency makes it an ideal target for drug development aimed at

ameliorating the disease process. “Whether the pathogenic proc-

ess is linked to a loss of function in which the expansion disrupts

splicing of the target or through the generation of toxic RNA dis-

rupting normal cellular processes will be determined by further

study,” added Traynor. “However the large size of the expansion

and its location in a non-coding region may argue for the later

mechanism.”

Disruption of RNA metabolism has already been identified as an

important mechanism in those cases with TDP43 and FUS muta-

tions, and this discovery provides further evidence for disrupted

RNA metabolism as a key underlying cause of disease.

“This is tremendously exciting,” commented ALS Association

Chief Scientist Dr. Lucie Bruijn, Ph.D. “These findings will sig-

nificantly impact the field as we begin to understand more about

the consequence of these changes to the disease process, aid our

understanding of FTD and ALS, potentially provide a diagnostic

tool, and enable the development of new therapeutic approaches.”

Dr Traynor’s team was funded by The ALS Association’s Aben-

droth ALS Genetic Discovery Fund, with additional funding from

the Robert Packard Institute of ALS Research at Johns Hopkins. Dr. Rademakers’ team was funded by the The ALS Association’s

Florida Chapter and Richard Essey. Both studies were funded by

the National Institute on Aging and the National Institute on Neu-

rological Diseases and Stroke. ###

“…potential to lead to signifi-

cant insights into how both of

these neurodegenerative dis-

eases develop, and may give us

much needed leads into new

ways to treat our patients,”...

We had a wonder-

ful support group

meeting on Sep-

tember 11! Our

speaker and in

home caregiver

Valarie Young did a wonderful job talking to

our group about in home respite care and

how to approach this subject when the time

comes. She is available to take our calls and

questions if you would like to visit with her

or use her services.

We are debating about moving our next

support group meeting day with it being

close to Thanksgiving and the Razorback

football games. We might move the date to

Sunday, November 20 so it will be the day af-

ter the ballgame in Little Rock for conven-

ience. I will make that announcement soon.

The Sherwood Firefighters Union held a golf

tournament on Monday, September 26 at

Stone Links golf course in Little Rock to

benefit the MDA and ALS association in

honor of Retired fire captain Cyle Harris.

They hope for this to be an annual event.

They had around 16 teams and wonderful

weather. We are so thankful to them for or-

ganizing this tournament here in central Ar-

kansas.

Look for more information about the upcom-

ing NWA ALSA golf tournament to be held

on Friday, November 4 at Stone Bridge golf

course in Fayetteville. This tournament will

feature former Arkansas Razorback players

and coaches to team with entrants in a 4 man

scramble. See our website for more details.

Another exciting idea from supporter Ryan

Morrow is a “Run for ALS” in conjunction

with the Little Rock Marathon. We will be

sending out more on this soon. The idea is

that runners will train and ask for donations

for their effort, and their money will go to the

ALS Association! This is such an awesome

idea and an easy way to gain awareness for

our organization.

It is only 6 months until the Little Rock Walk

to Defeat ALS!! Start brainstorming your

ideas for your teams and fundraisers. It will

be here before we know it!

Hope this finds you all well and enjoying the

nice weather. It’s time to sit outdoors and be

thankful for the blessings we have been

given! Please call us if you have any needs.

We have some supplies that were generously

donated to our loan closet so call me if you

are needing some items.

Love to you all!

Michelle

Central Arkansas

Central Arkansas Contact:

Michelle Harris

501-773-3832

michelle@als-arkansas.org

Caring Words From Carole

Care Coordinator

WE HELP! Who Are Social Workers

Carole Haws - Care Coordinator carole@als-arkansas.org

Social work is a profession for those with a strong desire to help improve people’s lives. Social workers assist people by helping them cope with issues in their everyday lives, deal with their relation-ships, and solve personal and family problems. Some social workers help clients who face a disability or a life-threatening disease or a social problem, such as inadequate housing, unemploy-ment, or substance abuse. Social work-ers also assist families that have serious domestic conflicts, sometimes involving child or spousal abuse. Some social workers conduct research, advocate for improved services, engage in systems design or are involved in planning or policy development. Many social work-ers specialize in serving a particular population or working in a specific set-ting. Find Out More: www.socialworkers.org

Carole & Payton (Daughter)

Loss of Bulbar Function and Breathing Difficulty

Bulbar refers to the part of the brain known as the medulla oblongata, which is at the top of the spinal column. Bulbar impairment indicates loss of motor nerve function to the muscles controlling speech, swallow-ing, and the upper airway. This condition results in problems with speech, swallowing, the ability to maintain an open upper airway during sleep, and the ability to clear away saliva as well as a tendency to aspi-rate. In the latter, food or liquids, including saliva, can drop down in the bronchial airways and alveoli of the lungs (aspiration). When coughing is ineffective or secretions increase, aspiration can cause parts of the lung to fill up resulting in pneumonia, an infection or inflammation of the alveoli and the very small airways of the lung.

Breathing Problems during Sleep

The following are some breathing difficulties that can occur during sleep:

If the bulbar muscles weaken, noisy breathing, snoring, or even the closing off of the upper airway results; this intermittent, blocked or stopped breathing is called obstructive sleep apnea. A decrease in the oxygen saturation of the blood can result.

During sleep, nerve and muscle functions relax, and, as a result, night-time under-ventilation problems may occur causing the amount of car-bon dioxide to rise. Symptoms include:

Morning headaches, lethargy, shortness of breath, disturbed sleep, daytime sleepiness, and poor appetite. Because obstructive sleep apnea and under-ventilation often occur together, a sleep study may be advised. It is usually done overnight in a sleep laboratory, where oxygen, CO2, muscle movement, airflow, brain electrical activity, and heart function are measured.

An alternative would be an overnight oximetry study at home that re-cords arterial (relating to the arteries) oxygen saturation and heart rate.

Decreased Cough Effectiveness

When the motor nerve function of the respiratory muscles is affected, cough strength decreases and breathing becomes weak. Decreased cough strength increases the risk of pneumonia and aspiration, because an effec-tive cough is needed to keep the airways clear.

(SOURCE: ALS CHAPTER 6: - EDWARD A. OPPENHEIMER, MD, FACP, FCCP, TERRY HEIMAN-PATTERSON, MD)

Join us in helping The ALS Association

in the fight against Lou Gehrig’s dis-

ease by building hope & enhancing the

quality of life while aggressively

searching for new treatments and a

cure.

There is no fee to participate. To register for the walk and/or donate visit

Saturday, October 1

Arvest Ballpark

Springdale

walkar.alsa.org

BEFORE

AFTER

Big thanks to the business owners and the local

kids whom has taken their time to help rebuild

the ramp for ALS Association of Arkansas. This

renovation made it easier and more efficient for

our patients to visit us!

Thank You All So Much!

-Staff of the ALS Association-Arkansas Chapter

Reese Gardener: GARDENER BUILDING SUPPLY,

Chris Nelson: GLOBAL CONSTRUCTION, & Don

Carroll: BATTER UP.

Jake Nelson, Peyton Fuller, Hayden Deitz, Aus-

tin Morris, & Kender Carroll.

Thank you all for your time and dedication!

We really appreciate the outstanding job!

ALS ASSOCATION - ARKANSAS CHAPTER STAFF

John Lewis - Executive Director

john@als-arkansas.org

Carole Haws - Care Coordinator

carole@als-arkansas.org

Michelle Harris - Little Rock Coordinator

michelle@als-arkansas.org

Chelsea Friesen - Intern

chelsea@als-arkansas.org

Sue Yang - Intern

sue@als-arkansas.org

W H YW H YW H Y W EW EW E W A L KW A L KW A L K

MEET OUR P.A.L.SMEET OUR P.A.L.SMEET OUR P.A.L.S

My name is Chakasha Bibbs. I am 34 year old single

mother of one son. He's 6 years old & his name is

Tevin. We recently relocated to Northwest Arkan-

sas from Dallas Texas. I was raised in Milwaukee,

Wisconsin. We live with my mother, which is my

main care giver and my hero!

I was diagnosed with ALS October 17th 2005. Just

6 short months after giving birth. I was 28 years

old, and had just started school for medical assistance. Incidentally, I was studying the

chapter on neuromuscular & degenerative diseases. So by the time I heard the Dr say Amyo-

trophic Lateral Sclerosis, I knew exactly what it was!

After three more opinions... I'd heard enough of what doctors had to say. I'd read enough

books about this fatal disease. And I'd researched enough statistics on the life expectancy of

this disease. From that moment forward, I decided to fight & live my life to best of my abil-

ity! I am a woman of Faith, I have a little boy who relies on me, and a mother who loves

her youngest child! And for those reasons, I am able to smile every day all day!

This journey has not been an easy one, but it's worth it!

Sincerely,

Chakasha

Ideas...

ALS Arkansas is always look-

ing for your great ideas for

fundraising and awareness.

We love jumping in and help-

ing you get these events off

the ground...do you have

some ideas?

Email

fundraising@als-arkansas.org

UPCOMING EVENTS

ALS ASSOCIATION - ARKANSAS CHAPTER

1113 WEST POPLAR

ROGERS, AR 72756

P: 479.621.8700

F: 479.621.8701

WWW.ALS-ARKANSAS.ORG

Oct 1 - 9am - Walk to Defeat ALS ™ (Arvest Ball Park, Springdale)

Registration begins at 9AM. Walk begins at 10AM

November 4– ALS Golf Tournament

Stonebridge Meadows in Fayetteville, AR

There will be 2 Flights-8 AM and 1 PM

Former Razorback Greats, including legendary Coach Ken Hatfield,

will be in attendance

More Info Email: john@als-arkansas.org

ALS Association Northwest Arkansas