Some exciting research news to begin the year.

Scientists at the Gladstone Institute of Neurological Disease (GIND) have identified the reason a key protein plays a major role in two neurodegenerative diseases. In the current edition of the Journal of Neuroscience, researchers in the laboratory of GIND Associate Director Steven Finkbeiner, MD, PhD have found how the protein TDP-43 may cause the neurodegeneration associated with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin-positive inclusion bodies (FTLDu). TDP-43, is the major component of protein aggregates in patients with these diseases. Mutations in the TDP-43 gene are also associated with familial forms of ALS and FTLDu.

Gladstone scientists identify role of key protein in ALS and frontotemporal dementia

I had high hopes for a new treatment/therapy in year 2009, but all I witnessed was some exciting research. Regardless, the hopes are still high for 2010; let’s just wait and watch. At the beginning of this year I wasn’t sure how my disease will progress, will it be slow or fast, will it stop progressing or will it be something else. Well now I know, it’s still progressing and doctor says it’s on the slower side. At the start of the year I was able to walk and my right hand was getting weaker but still usable. Now at the end of the year I’m completely wheelchair bound, my right hand has lost all its function and left hand is in the same stage as right hand was at the beginning of this year. Even with all this I refuse to give up and my hopes for a treatment hasn’t dampened.

Since 2010 is just around the corner, I wish all my readers a very happy new year 2010.

Some more exciting research news to end the year.

By implanting an electrode into the brain of a person with locked-in syndrome, scientists have demonstrated how to wirelessly transmit neural signals to a speech synthesizer. The "thought-to-speech" process takes about 50 milliseconds – the same amount of time for a non-paralyzed, neurologically intact person to speak their thoughts. The study marks the first successful demonstration of a permanently installed, wireless implant for real-time control of an external device.

Machine Translates Thoughts into Speech in Real Time

There isn’t a major change from last month except that I need help with feeding now. I can still feed myself but my hand tires quickly, so I need extra help. Apart from this life is pretty good. There are banana trees and coconut trees around the house here. All this ensures that I have a steady supply of fresh bananas and coconut water for myself!

Another interesting research news, this time it involves RNA.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by loss of motor neurons, denervation of target muscles, muscle atrophy, and paralysis. Understanding ALS pathogenesis may require a fuller understanding of the bidirectional signaling between motor neurons and skeletal muscle fibers at neuromuscular synapses. Here, we show that a key regulator of this signaling is miR-206, a skeletal muscle–specific microRNA that is dramatically induced in a mouse model of ALS. Mice that are genetically deficient in miR-206 form normal neuromuscular synapses during development, but deficiency of miR-206 in the ALS mouse model accelerates disease progression. miR-206 is required for efficient regeneration of neuromuscular synapses after acute nerve injury, which probably accounts for its salutary effects in ALS. miR-206 mediates these effects at least in part through histone deacetylase 4 and fibroblast growth factor signaling pathways. Thus, miR-206 slows ALS progression by sensing motor neuron injury and promoting the compensatory regeneration of neuromuscular synapses.

MicroRNA-206 Delays ALS Progression and Promotes Regeneration of Neuromuscular Synapses in Mice — Williams et al. 326 (5959): 1549 — Science

Looks like there is a new drug in pipeline which can help me. I am so excited!

Muscle function was assessed by muscle manual testing (MMT), a commonly used ALS endpoint which uses a manual method of functional assessment of 34 muscles over the whole body. In addition, a subset of subjects that showed an increase in muscle function over this period also demonstrated improvement in one or more additional end-points. These end-points include the Revised ALS Functional Rating Scale (ALSFRS-R) which is a validated rating instrument for monitoring the quality of life and progression of disability in patients with ALS and whose scores correlate significantly with survival, and forced vital capacity (FVC), a measure of lung function.

PharmaLive: Sangamo BioSciences Announces Presentation of Preliminary Data From Phase 2 Study of SB-509 at International ALS Symposium