Possible Mito cure for MNGIE!!!!!

[Guest guest]

Lori, This is very exciting news. I have searched my books and the net and

this is very technical. I am exhausted tonight. I will look tomorrow again.

S.

Possible Mito cure for MNGIE!!!!!

>

>

>Sorry for cross posting but this is really big news for anyone

>affected with mito disease combined with GI dysfunction. I want to

>reach as many of you as possible simply to spread the news but also to

>see if anyone can explain the biochemistry of this.

>

>I saw this in my issue of Quest Magazine (MDA) and I am very excited!

>I am hoping to see if there is a way to test Alycia for MNGIE as she

>fits the bill symtomatically. I am also hoping that we can treat her

>in the manner suggested in the last paragraph.

>

>Does anyone know anything about thymidine phosphorylase? What

>nucleotides would be missing? What Does Thymidine phosphorylase make?

>

>It is my understanding that this type of mito disease can be treated

>by replacing whatever the substance is that Thymidine phosphorlyase is

>failing to make!

>

>Any biochemists out there who can help figure this out?

>

>Lori Downs

>Mother to Alycia, Mitochondrial Myopathy

>

>RE:

>

>TEAM DISCOVERS NUCLEAR GENE AFFECTING MITOCHONDRIAL DNA

>

> Michio Hirano of Columbia University in New York, working with

>long-time MDA

> grantee Salvatore DiMauro, also of Columbia, recently discovered

>the first mutation in a

> nuclear gene that interferes with communication between the

>nucleus of the cell and the

> DNA of the mitochondria (the cell's " power plants " ). The work was

>published in the Jan.

> 29 issue of Science.

>

> The researchers found that mutations in the nuclear gene for an

>enzyme called thymidine

> phosphorylase are responsible for a mitochondrial disorder known

>as MNGIE, or

> mitochondrial neurogastrointestinal encephalopathy. As the name

>implies, this disease

> affects a number of systems, including the voluntary muscles,

>nervous system and digestive

> system. The involvement of the digestive system can be

>particularly devastating in this

> disorder and often leads to malnourishment at a young age.

>

> Researchers already knew that large deletions in the

>mitochondrial DNA of people with

> MNGIE are probably the immediate cause of the problems associated

>with this disorder,

> but it wasn't clear how these deletions occurred. A communication

>problem between the

> nucleus and the mitochondria was suspected, however, because the

>disease had been

> genetically linked to a location in the nuclear DNA.

>

> Now Hirano has demonstrated that the nuclear gene that encodes

>thymidine

> phosphorylase is mutated in 12 out of 12 unrelated people with

>MNGIE, even though

> these people have different deletions in their mitochondrial DNA.

>

> The researchers suspect that a lack of thymidine phosphorylase

>activity resulting from

> these mutations may cause deletions in the mitochondrial DNA by

>limiting the availability

> of some nucleotides (DNA " building blocks " ) in the mitochondria.

>

> Now that researchers know how mitochondrial DNA deletions occur

>in MNGIE,

> therapies can be designed to compensate for the decreased

>activity of thymidine

> phosphorylase. Hirano suggests that this might be accomplished

>either by injecting the

> missing enzyme, or increasing directly the levels of nucleotides

>that are in short supply.

>

>

>

>

>

>

>------------------------------------------------------------------------

>Did you know ONElist has over 300 Star Wars lists?

>http://www.onelist.com

>Join one today!

>------------------------------------------------------------------------

>Brought to you by www.imdn.org - an on-line support group for those

affected by mitochondrial disease.

>

[Guest guest]

Lori, This is very exciting news. I have searched my books and the net and

this is very technical. I am exhausted tonight. I will look tomorrow again.

S.

Possible Mito cure for MNGIE!!!!!

>

>

>Sorry for cross posting but this is really big news for anyone

>affected with mito disease combined with GI dysfunction. I want to

>reach as many of you as possible simply to spread the news but also to

>see if anyone can explain the biochemistry of this.

>

>I saw this in my issue of Quest Magazine (MDA) and I am very excited!

>I am hoping to see if there is a way to test Alycia for MNGIE as she

>fits the bill symtomatically. I am also hoping that we can treat her

>in the manner suggested in the last paragraph.

>

>Does anyone know anything about thymidine phosphorylase? What

>nucleotides would be missing? What Does Thymidine phosphorylase make?

>

>It is my understanding that this type of mito disease can be treated

>by replacing whatever the substance is that Thymidine phosphorlyase is

>failing to make!

>

>Any biochemists out there who can help figure this out?

>

>Lori Downs

>Mother to Alycia, Mitochondrial Myopathy

>

>RE:

>

>TEAM DISCOVERS NUCLEAR GENE AFFECTING MITOCHONDRIAL DNA

>

> Michio Hirano of Columbia University in New York, working with

>long-time MDA

> grantee Salvatore DiMauro, also of Columbia, recently discovered

>the first mutation in a

> nuclear gene that interferes with communication between the

>nucleus of the cell and the

> DNA of the mitochondria (the cell's " power plants " ). The work was

>published in the Jan.

> 29 issue of Science.

>

> The researchers found that mutations in the nuclear gene for an

>enzyme called thymidine

> phosphorylase are responsible for a mitochondrial disorder known

>as MNGIE, or

> mitochondrial neurogastrointestinal encephalopathy. As the name

>implies, this disease

> affects a number of systems, including the voluntary muscles,

>nervous system and digestive

> system. The involvement of the digestive system can be

>particularly devastating in this

> disorder and often leads to malnourishment at a young age.

>

> Researchers already knew that large deletions in the

>mitochondrial DNA of people with

> MNGIE are probably the immediate cause of the problems associated

>with this disorder,

> but it wasn't clear how these deletions occurred. A communication

>problem between the

> nucleus and the mitochondria was suspected, however, because the

>disease had been

> genetically linked to a location in the nuclear DNA.

>

> Now Hirano has demonstrated that the nuclear gene that encodes

>thymidine

> phosphorylase is mutated in 12 out of 12 unrelated people with

>MNGIE, even though

> these people have different deletions in their mitochondrial DNA.

>

> The researchers suspect that a lack of thymidine phosphorylase

>activity resulting from

> these mutations may cause deletions in the mitochondrial DNA by

>limiting the availability

> of some nucleotides (DNA " building blocks " ) in the mitochondria.

>

> Now that researchers know how mitochondrial DNA deletions occur

>in MNGIE,

> therapies can be designed to compensate for the decreased

>activity of thymidine

> phosphorylase. Hirano suggests that this might be accomplished

>either by injecting the

> missing enzyme, or increasing directly the levels of nucleotides

>that are in short supply.

>

>

>

>

>

>

>------------------------------------------------------------------------

>Did you know ONElist has over 300 Star Wars lists?

>http://www.onelist.com

>Join one today!

>------------------------------------------------------------------------

>Brought to you by www.imdn.org - an on-line support group for those

affected by mitochondrial disease.

>

[Guest guest]

Lori, This is very exciting news. I have searched my books and the net and

this is very technical. I am exhausted tonight. I will look tomorrow again.

S.

Possible Mito cure for MNGIE!!!!!

>

>

>Sorry for cross posting but this is really big news for anyone

>affected with mito disease combined with GI dysfunction. I want to

>reach as many of you as possible simply to spread the news but also to

>see if anyone can explain the biochemistry of this.

>

>I saw this in my issue of Quest Magazine (MDA) and I am very excited!

>I am hoping to see if there is a way to test Alycia for MNGIE as she

>fits the bill symtomatically. I am also hoping that we can treat her

>in the manner suggested in the last paragraph.

>

>Does anyone know anything about thymidine phosphorylase? What

>nucleotides would be missing? What Does Thymidine phosphorylase make?

>

>It is my understanding that this type of mito disease can be treated

>by replacing whatever the substance is that Thymidine phosphorlyase is

>failing to make!

>

>Any biochemists out there who can help figure this out?

>

>Lori Downs

>Mother to Alycia, Mitochondrial Myopathy

>

>RE:

>

>TEAM DISCOVERS NUCLEAR GENE AFFECTING MITOCHONDRIAL DNA

>

> Michio Hirano of Columbia University in New York, working with

>long-time MDA

> grantee Salvatore DiMauro, also of Columbia, recently discovered

>the first mutation in a

> nuclear gene that interferes with communication between the

>nucleus of the cell and the

> DNA of the mitochondria (the cell's " power plants " ). The work was

>published in the Jan.

> 29 issue of Science.

>

> The researchers found that mutations in the nuclear gene for an

>enzyme called thymidine

> phosphorylase are responsible for a mitochondrial disorder known

>as MNGIE, or

> mitochondrial neurogastrointestinal encephalopathy. As the name

>implies, this disease

> affects a number of systems, including the voluntary muscles,

>nervous system and digestive

> system. The involvement of the digestive system can be

>particularly devastating in this

> disorder and often leads to malnourishment at a young age.

>

> Researchers already knew that large deletions in the

>mitochondrial DNA of people with

> MNGIE are probably the immediate cause of the problems associated

>with this disorder,

> but it wasn't clear how these deletions occurred. A communication

>problem between the

> nucleus and the mitochondria was suspected, however, because the

>disease had been

> genetically linked to a location in the nuclear DNA.

>

> Now Hirano has demonstrated that the nuclear gene that encodes

>thymidine

> phosphorylase is mutated in 12 out of 12 unrelated people with

>MNGIE, even though

> these people have different deletions in their mitochondrial DNA.

>

> The researchers suspect that a lack of thymidine phosphorylase

>activity resulting from

> these mutations may cause deletions in the mitochondrial DNA by

>limiting the availability

> of some nucleotides (DNA " building blocks " ) in the mitochondria.

>

> Now that researchers know how mitochondrial DNA deletions occur

>in MNGIE,

> therapies can be designed to compensate for the decreased

>activity of thymidine

> phosphorylase. Hirano suggests that this might be accomplished

>either by injecting the

> missing enzyme, or increasing directly the levels of nucleotides

>that are in short supply.

>

>

>

>

>

>

>------------------------------------------------------------------------

>Did you know ONElist has over 300 Star Wars lists?

>http://www.onelist.com

>Join one today!

>------------------------------------------------------------------------

>Brought to you by www.imdn.org - an on-line support group for those

affected by mitochondrial disease.

>

[Guest guest]

Sorry for cross posting but this is really big news for anyone

affected with mito disease combined with GI dysfunction. I want to

reach as many of you as possible simply to spread the news but also to

see if anyone can explain the biochemistry of this.

I saw this in my issue of Quest Magazine (MDA) and I am very excited!

I am hoping to see if there is a way to test Alycia for MNGIE as she

fits the bill symtomatically. I am also hoping that we can treat her

in the manner suggested in the last paragraph.

Does anyone know anything about thymidine phosphorylase? What

nucleotides would be missing? What Does Thymidine phosphorylase make?

It is my understanding that this type of mito disease can be treated

by replacing whatever the substance is that Thymidine phosphorlyase is

failing to make!

Any biochemists out there who can help figure this out?

Lori Downs

Mother to Alycia, Mitochondrial Myopathy

RE:

TEAM DISCOVERS NUCLEAR GENE AFFECTING MITOCHONDRIAL DNA

Michio Hirano of Columbia University in New York, working with

long-time MDA

grantee Salvatore DiMauro, also of Columbia, recently discovered

the first mutation in a

nuclear gene that interferes with communication between the

nucleus of the cell and the

DNA of the mitochondria (the cell's " power plants " ). The work was

published in the Jan.

29 issue of Science.

The researchers found that mutations in the nuclear gene for an

enzyme called thymidine

phosphorylase are responsible for a mitochondrial disorder known

as MNGIE, or

mitochondrial neurogastrointestinal encephalopathy. As the name

implies, this disease

affects a number of systems, including the voluntary muscles,

nervous system and digestive

system. The involvement of the digestive system can be

particularly devastating in this

disorder and often leads to malnourishment at a young age.

Researchers already knew that large deletions in the

mitochondrial DNA of people with

MNGIE are probably the immediate cause of the problems associated

with this disorder,

but it wasn't clear how these deletions occurred. A communication

problem between the

nucleus and the mitochondria was suspected, however, because the

disease had been

genetically linked to a location in the nuclear DNA.

Now Hirano has demonstrated that the nuclear gene that encodes

thymidine

phosphorylase is mutated in 12 out of 12 unrelated people with

MNGIE, even though

these people have different deletions in their mitochondrial DNA.

The researchers suspect that a lack of thymidine phosphorylase

activity resulting from

these mutations may cause deletions in the mitochondrial DNA by

limiting the availability

of some nucleotides (DNA " building blocks " ) in the mitochondria.

Now that researchers know how mitochondrial DNA deletions occur

in MNGIE,

therapies can be designed to compensate for the decreased

activity of thymidine

phosphorylase. Hirano suggests that this might be accomplished

either by injecting the

missing enzyme, or increasing directly the levels of nucleotides

that are in short supply.

[Guest guest]

In a message dated 99-05-05 22:46:26 EDT, you write:

<< Sorry for cross posting but this is really big news for anyone

affected with mito disease combined with GI dysfunction. I want to

reach as many of you as possible simply to spread the news but also to

see if anyone can explain the biochemistry of this.

I saw this in my issue of Quest Magazine (MDA) and I am very excited!

I am hoping to see if there is a way to test Alycia for MNGIE as she

fits the bill symtomatically. I am also hoping that we can treat her

in the manner suggested in the last paragraph.

Does anyone know anything about thymidine phosphorylase? What

nucleotides would be missing? What Does Thymidine phosphorylase make?

It is my understanding that this type of mito disease can be treated

by replacing whatever the substance is that Thymidine phosphorlyase is

failing to make!

Any biochemists out there who can help figure this out?

Lori Downs

Mother to Alycia, Mitochondrial Myopathy

Dear Lori:

Dr Di Mauro's phone nimber is:

or you can call Dr De Vivo's research assistant, Yoselyn, at

Better yet, have your Neuro call them to look into testing your daughter!

Lynnie

[Guest guest]

In a message dated 99-05-05 22:46:26 EDT, you write:

<< Sorry for cross posting but this is really big news for anyone

affected with mito disease combined with GI dysfunction. I want to

reach as many of you as possible simply to spread the news but also to

see if anyone can explain the biochemistry of this.

I saw this in my issue of Quest Magazine (MDA) and I am very excited!

I am hoping to see if there is a way to test Alycia for MNGIE as she

fits the bill symtomatically. I am also hoping that we can treat her

in the manner suggested in the last paragraph.

Does anyone know anything about thymidine phosphorylase? What

nucleotides would be missing? What Does Thymidine phosphorylase make?

It is my understanding that this type of mito disease can be treated

by replacing whatever the substance is that Thymidine phosphorlyase is

failing to make!

Any biochemists out there who can help figure this out?

Lori Downs

Mother to Alycia, Mitochondrial Myopathy

Dear Lori:

Dr Di Mauro's phone nimber is:

or you can call Dr De Vivo's research assistant, Yoselyn, at

Better yet, have your Neuro call them to look into testing your daughter!

Lynnie

[Guest guest]

In a message dated 99-05-05 22:46:26 EDT, you write:

<< Sorry for cross posting but this is really big news for anyone

affected with mito disease combined with GI dysfunction. I want to

reach as many of you as possible simply to spread the news but also to

see if anyone can explain the biochemistry of this.

I saw this in my issue of Quest Magazine (MDA) and I am very excited!

I am hoping to see if there is a way to test Alycia for MNGIE as she

fits the bill symtomatically. I am also hoping that we can treat her

in the manner suggested in the last paragraph.

Does anyone know anything about thymidine phosphorylase? What

nucleotides would be missing? What Does Thymidine phosphorylase make?

It is my understanding that this type of mito disease can be treated

by replacing whatever the substance is that Thymidine phosphorlyase is

failing to make!

Any biochemists out there who can help figure this out?

Lori Downs

Mother to Alycia, Mitochondrial Myopathy

Dear Lori:

Dr Di Mauro's phone nimber is:

or you can call Dr De Vivo's research assistant, Yoselyn, at

Better yet, have your Neuro call them to look into testing your daughter!

Lynnie