research on neurodegenerative diseases

[Guest guest]

Hi group,

Below is an recent article by Ann Mac in the Dana Press regarding Dr.

Fink's research and the hope it may lead to advancements for treatments on

neurodegenerative diseases and spinal cord injury (not just HSP).

The hope is that using HSP genes to produce spastic paraplegia in mice will

allow scientists to examine the biochemical processes at play, and discover

treatments for HSP, PLS and other diseases caused by neurodegeneration. The

author says, " The scientists therefore speculate that learning more about how

atlastin functions normally, and how it might contribute to HSP when mutated,

may also shed light on other neurodegenerative diseases and on spinal cord

injury. "

Here's the full article:

In a finding that may one day shed light on other neurodegenerative diseases,

researchers report in the November issue of Nature Genetics that they have

identified one of the genes that cause the childhood form of hereditary

spastic paraplegia (HSP). The disorder can strike at any age, and currently

affects 10,000 to 20,000 Americans. (Estimates vary because the disorder is

sometimes misdiagnosed as multiple sclerosis or cerebral palsy.) HSP begins

with subtle difficulties in walking but progresses to paralysis as nerves in

the spinal cord degenerate.

A gene implicated in the adult form of HSP was discovered in 1999. To find

one of the genes responsible for the childhood version of HSP, scientists

from the University of Michigan Health System (UMHS) analyzed DNA samples

from 13 early-onset families, in which affected members developed symptoms

before age 10. Previous linkage analysis, which tracks patterns of heredity,

had narrowed the search to a particular area on chromosome 14.

The scientists first compared DNA sequences in that area from affected and

unaffected members in three families. In all three, the scientists discovered

that each affected member had a one-letter misspelling in the code for a gene

dubbed SPG3A. The scientists then analyzed DNA samples from10 additional

early-onset families, and found the same single-letter mutation in two other

families.

The scientists estimate that defects in SPG3A could be responsible for as

many as one in four childhood cases of HSP. They are currently developing a

genetic test to detect the mutation, which would aid in diagnosis and

prenatal screening.

But there may be longer-term implications for treatment. “Our goal is to

understand how mutations in this gene cause nerve degeneration so that we can

stop this process and facilitate nerve outgrowth again,†said Fink, a

neurologist at UMHS and senior author of the paper.

SPG3A contains instructions for a protein, atlastin, which is structurally

similar to others known as dynamins that - among other things - help nerve

cells to communicate. The scientists therefore speculate that learning more

about how atlastin functions normally, and how it might contribute to HSP

when mutated, may also shed light on other neurodegenerative diseases and on

spinal cord injury.

Kathi