III 

112TH CONGRESS 

2D SESSION S. RES. 490 

Designating the week of September 16, 2012, as ‘‘Mitochondrial Disease 

Awareness Week’’, reaffirming the importance of an enhanced and coordinated research effort on mitochondrial diseases, and commending the 

National Institutes of Health for its efforts to improve the understanding 

of mitochondrial diseases. 

IN THE SENATE OF THE UNITED STATES 

JUNE 12, 2012 

Mrs. BOXER (for herself, Mr. MENENDEZ, Mr. LIEBERMAN, Mr. 

BLUMENTHAL, Mrs. FEINSTEIN, Mrs. SHAHEEN, Mr. WEBB, and Mr. 

KERRY) submitted the following resolution; which was referred to the 

Committee on Health, Education, Labor, and Pensions 

NOVEMBER 15, 2012 

Committee discharged; considered and agreed to 

RESOLUTION 

Designating the week of September 16, 2012, as 

‘‘Mitochondrial Disease Awareness Week’’, reaffirming 

the importance of an enhanced and coordinated research 

effort on mitochondrial diseases, and commending the 

National Institutes of Health for its efforts to improve 

the understanding of mitochondrial diseases. 

Whereas Brittany Wilkinson, the first Youth Ambassador of 

the United Mitochondrial Disease Foundation, joined 

other Youth Ambassadors of the United Mitochondrial 


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Disease Foundation in working tirelessly to raise awareness about mitochondrial diseases; 

Whereas mitochondrial diseases result from a defect that reduces the ability of the mitochondria in a cell to produce 

energy; 

Whereas, as mitochondria fail to produce enough energy, cells 

cease to function properly and eventually die, leading to 

the failure of organ systems and possibly the death of the 

affected individuals; 

Whereas mitochondrial diseases can present themselves at 

any age, and mortality rates vary depending upon the 

particular disease; 

Whereas the most severe mitochondrial diseases result in the 

progressive loss of function in multiple organs, including 

the loss of neurological and muscle function, and death 

within several years; 

Whereas mitochondrial diseases are a relatively newly identified group of diseases, first recognized in the late 1960s, 

and diagnosis of mitochondrial diseases is extremely difficult; 

Whereas there are more than 100 identified primary 

mitochondrial diseases, but researchers believe there are 

several hundred other types of unidentified mitochondrial 

diseases and further research is necessary to help identify 

those diseases; 

Whereas mitochondrial dysfunction is associated with many 

diseases, such as Parkinson’s disease, Alzheimer’s disease, amyotrophic lateral sclerosis, autism, diabetes, cancer, and many other diseases associated with aging; 

Whereas research into primary mitochondrial diseases can 

provide applications to biomedical research and a window 


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into our understanding of many other diseases, including 

possible treatments and cures for diseases such as Parkinson’s disease, Alzheimer’s disease, amyotrophic lateral 

sclerosis, autism, diabetes, cancer, and many other diseases associated with aging; 

Whereas researchers estimate that one in 4,000 children will 

develop a mitochondrial disease related to an inherited 

mutation by 10 years of age, and recent studies of umbilical cord blood samples show that one in 200 people could 

develop a mitochondrial disease in their lifetime; 

Whereas researchers also believe that those numbers could be 

much higher, given the difficulty associated with diagnosing mitochondrial disease and the many cases that are 

either misdiagnosed or never diagnosed; 

Whereas there are no cures for mitochondrial diseases, nor 

are there specific treatments for any of those diseases; 

Whereas human energy production involves multiple organ 

systems, and therefore primary mitochondrial diseases research involves many Institutes at the National Institutes 

of Health; 

Whereas, according to the National Institutes of Health, 

more than $600,000,000 is being spent on research related to mitochondrial functions, of which $18,000,000 is 

being spent on actual primary mitochondrial diseases research; 

Whereas the National Institutes of Health has taken an increased interest in primary mitochondrial diseases and 

has sponsored a number of activities in recent years 

aimed at advancing mitochondrial medicine, including incorporating research into functional variations in mitoVerDate Mar 15 2010 21:36 Nov 15, 2012 Jkt 029200 PO 00000 Frm 00003 Fmt 6652 Sfmt 6300 E:\BILLS\SR490.ATS SR490

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chondria in the Transformative Research Awards Initiative; 

Whereas, in March 2012, the National Institutes of Health 

convened a 2-day symposium entitled ‘‘Translational Research in Primary Mitochondrial Diseases: Obstacles and 

Opportunities’’, which brought together leading government and private sector researchers and drug developers 

to share information related to primary mitochondrial 

diseases, develop systems to facilitate future collaboration, survey obstacles, needs, and priorities of primary 

mitochondrial diseases research, and develop mechanisms 

to enhance translation of basic science discoveries to 

diagnostics and therapeutics; and 

Whereas, as a consequence of the symposium, a white paper 

has been developed that identifies current research challenges and impediments and a suggested course of action 

to address those challenges: Now, therefore, be it 

1 Resolved, That the Senate— 

2 (1) designates the week of September 16, 2012, 

3 as ‘‘Mitochondrial Disease Awareness Week’’; 

4 (2) reaffirms the importance of an enhanced 

5 and coordinated research effort aimed at improving 

6 the understanding of primary mitochondrial diseases 

7 and the development of treatments and cures; 

8 (3) commends the National Institutes of Health 

9 for its efforts to organize the symposium entitled 

10 ‘‘Translational Research in Primary Mitochondrial 

11 Disease: Obstacles and Opportunities’’ to improve 

12 the understanding of mitochondrial diseases and to 


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1 enhance collaboration and chart a course for the fu2 ture with respect to research on mitochondrial dis3 eases; 

4 (4) encourages the National Institutes of 

5 Health to place a greater priority on research into 

6 primary mitochondrial diseases, to continue to ex7 plore the connections between mitochondrial dys8 function and other systemic diseases, and to promote 

9 collaboration and coordination among the Institutes 

10 of the National Institutes of Health and with other 

11 organizations; and 

12 (5) encourages the National Institutes of 

13 Health to consider the recommendations and address 

14 research directions identified in the white paper de15 veloped from the symposium described in paragraph 

16 (3), including— 

17 (A) enhanced emphasis on research regard18 ing basic mitochondrial physiology, variations in 

19 mitochondrial function in different body tissues, 

20 and improvements in the manipulation of 

21 mitochondrial DNA; 

22 (B) supporting research that will provide 

23 the basis for drug development, including im24 proved mouse models, efforts to achieve break25 throughs in in vivo research capability, conVerDate Mar 15 2010 21:36 Nov 15, 2012 Jkt 029200 PO 00000 Frm 00005 Fmt 6652 Sfmt 6201 E:\BILLS\SR490.ATS SR490

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1 sensus development around assays, and next 

2 generation sequencing; 

3 (C) expansion and support of stable, long4 term patient registries and biospecimen reposi5 tories in collaboration with patient advocacy 

6 groups to promote enrollment and ultimately 

7 pave the way for natural history trials; and 

8 (D) the establishment of a working group 

9 to develop a system for the continued inter10 action among the Institutes within the National 

11 Institutes of Health and with other organiza12 tions and the establishment of a website on re13 search on primary mitochondrial diseases. 

Æ 


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