Cos'è la Nubpl malattia cos'è?

Cos'è la Nubpl malattia cos'è?

Si tratta di una malattia neurodegenerativa, che porta pian piano al collasso degli organi, oltre a deficit di crescita, basti pensare che al momento Elena pesa poco più di 15 chili ed è alta 115 centimetri, ma anche interstiziopatia polmonare, ipossigenazione periferica con dita delle mani e dei piedi a bacchetta di ...

Quante persone hanno malattie rare?

In base ai dati coordinati dal Registro Nazionale Malattie Rare dell'Istituto Superiore di Sanità (ISS), in Italia si stimano 20 casi di malattie rare ogni 10.000 abitanti e ogni anno sono circa 19.000 i nuovi casi segnalati dalle oltre 200 strutture sanitarie diffuse in tutta la penisola.

What are the signs and symptoms of NUBPL?

• Patients with NUBPL present clinical symptoms between the ages of 3-24 months, including onset neurological symptoms: cerebellar dysfunction – progressive cerebellar & pons hypoplasia, global developmental delay, inability to walk, ataxia, nystagmus, and speech articulation difficulty.

What does the NUBPL gene do?

• The NUBPL gene encodes a protein that is a member of the Mrp/NBP35 ATP -binding family. This protein is required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), the first oligomeric enzymatic complex of the mitochondrial respiratory chain located in the inner mitochondrial membrane.

What is the pathophysiology of NUBPL dysfunction?

• The dysfunction of NUBPL results in an irregular assembly of the peripheral arm of complex I, which may lead to a decrease in activity. Knockdown of the protein also causes abnormal mitochondrial ultrastructure characterized by respiratory supercomplex remodeling, christa membrane loss, and abnormally high lactate levels.

What is nubnubpl and why is it important?

• NUBPL is required for the assembly of complex I, which is composed of 45 evolutionally conserved core subunits, including both mitochondrial DNA and nuclear encoded subunits. One of its arms is embedded in the inner membrane of the mitochondria, and the other is embedded in the organelle. The two arms are arranged in an L-shaped configuration.