| We are very pleased to announce the Blazeman Foundation for ALS has again awarded The Blazeman Foundation Post-Doctoral Fellowship to Kaouthar Ajroud, PhD for her work in protein characteristics and function in ALS. This is their third year supporting Dr. Ajroud’s work. |  |
H-X Deng MD PhD is the lead author of a publication in online Annals of Neurology that reports the presence of FUS immunoreactive inclusions in postmortem spinal cord tissue from patients with both sporadic and familial ALS (FALS). The study examined tissue from 100 cases: 52 sporadic ALS patients (SALS), 10 patients with ALS and dementia, 16 with FALS, 11 with frontotemporal lobar degeneration, as well as 11 controls without neurologic disease. The inclusions were identified in tissue from all types ALS except ALS caused by mutations in SOD1. Neither were the inclusions present in control tissue.
FUS mutations are known to account for a very small portion of FALS and SALS. This data suggests that FUS protein may be a common component of cellular inclusions in non-SOD1 ALS and some other neurodegenerative conditions. This implies that there is a shared pathogenic pathway between these disorders, while SOD1-ALS may have a pathogenic pathway that is different.
These findings provide a new basis for investigation of a rational therapy that may be effective for SALS and FALS.
Collaborators included Eileen Bigio MD and Manjari Mishra PhD of Northwestern’s Division of Neuropathology and Enrico Mugnaini MD of Northwestern’s Department of Cell and Molecular Biology.
We are very excited to report we have begun collection of our first skin samples from ALS patients for use in transformation to pluripotent stem cells. These stem cells in turn are capable of generating motor neurons. The study will compare molecular level activities of these motor neurons from patients with different types of ALS and different presentations and courses of ALS. We will see whether there are differences between these activities in neurons from patients with younger vs. older ages of onset, from patients with a shorter vs. longer course of disease, from patients with different genetic mutations, and so on. If such differences are found it may be possible to use that information to develop treatments that delay onset and slow or arrest symptom progression. This very exciting, cutting edge work is being funded by a grant from the Blazeman Foundation, founded in memory of tri-athlete Jonathan Blais, who died from ALS at age 33.
For more information on Blazeman Foundation please visithttp://www.waronals.com/
Northwestern University President thanks Blazeman Foundation for their support to our laboratory
We are pleased to report the award of funding
from the National Institute of Environmental Health Sciences for a two year study
in which we will carry out intensive molecular genetic and
biochemical/toxicological studies in people and animal models.
In human studies we will examine the role in ALS
of specific variations in PON1, PON2, PON3 and CYP7B1, genes of detoxifying
enzymes previously associated with neurodegeneration. These studies
will be augmented with actual measurement of the activities of these enzymes
and their metabolites in blood, cerebrospinal fluid (CSF) and brain and spinal
cord tissue from ALS patients and controls.
We will also develop animal models using variations in the PON genes and CYP7B1 and examine the response of their nervous systems to exposures of specific pesticides and fungicides that are normally detoxified by the enzymes made by these genes. In parallel with the human studies the enzyme activities in mouse tissue, blood and spinal fluid will be measured and residues of pesticides and fungicides will be tested.
We are grateful in reporting the 31st year
of continuous funding from the Les Turner ALS Foundation for infrastructure
support. This crucial funding allows us to support salaries of
research personnel and buy and service very expensive, technologically
advanced equipment used to maintain our cell and tissue banks and genotyping
capabilities.
And, for the 22nd year, the Foundation is providing support to the Lois Insolia ALS Clinic at the Northwestern Medical Faculty Foundation for nurse and social worker salaries, as well as transportation and outreach services.
For more information about Les Turner Foundation please visit www.lesturnerals.org
| We are very pleased to announce that Dr. Nancy Kuntz will available to see pediatric patients with neuromuscular disorders in the MDA clinic. Dr. Kuntz is a graduate of Boston University School of Medicine, who completed her residency in pediatrics at Johns Hopkins Hospital, followed by fellowships in pediatric neurology and electromyography at the Mayo Clinic-Rochester. She is board certified in pediatrics, neurology and neurodevelopmental disabilities. |  |
Our team has identified mutations in the TRPV4 gene as causative in two related degenerative motor nerve disorders, scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (CMT2C).
