Ken Kosik: When we looked at the family trees, about 50 percent of the offspring were getting the disease. That’s a clear signature of a gene.

But what gene? Kosik connected Dr. Lopera with leading geneticists in the U.S., and they started collecting blood samples and searching.  Within a year, a major breakthrough. They found a specific mutation in a gene on chromosome 14 – one tiny flaw in the DNA responsible for all this family’s suffering.  The discovery was published in 1997 in the Journal of the American Medical Association. Lopera had identified the largest concentration of early onset Alzheimer’s cases in the world.

Lesley Stahl: If a person has that mutation, do they get Alzheimer’s?

Ken Kosik: Yes, they do.

Lesley Stahl: If they have it, they definitely get the disease.

Ken Kosik: Right. There are some mutations where you don’t definitely get it. But this is a bad one. And if you have this mutation, you get it.

For families like Alonso’s, discovering the mutation was a blessing – a crucial first step toward finding a way to fight the disease.  But it was also a curse, because it meant that anyone whose parent had the mutation has a 50/50 chance of having inherited it too.

Lesley Stahl: Do any of you know if you have that mutation? Do you know?

Victor: No.

PET Scans

But in members of the family with the mutation, it was a different story.

Eric Reiman: Extensive amyloid deposition in the brain.

Lesley Stahl: That’s the red.

Eric Reiman: Red is more amyloid. But yellow is also amyloid.

This brain had even more. The images showed that amyloid plaques build up in the brain more than a decade before memory loss begins.

So if a drug could remove that red and yellow, maybe the disease could be prevented.  Banner developed a plan for a multimillion dollar drug trial and convened a meeting with leading scientists, pharmaceutical companies, and representatives of the NIH.

Pierre Tariot: The end of the meeting, each scientist was allowed to say one closing thought. And Francisco had the last word.

Lesley Stahl: Lopera?

Pierre Tariot: And he paused a long time. And you could hear a pin drop in the room.

Francisco Lopera: I said to them– “We w– the families are waiting for you.”

Lesley Stahl: They’re waiting for you.

Pierre Tariot: That’s the point when, you know, the goose bumps came, and we said, “We really have to make this work. We really do.”

http://www.cbsnews.com/news/60-minutes-alzheimers-disease-medellin-colombia-lesley-stahl/?WT.mc_id=enews2016_11_30&utm_source=enews-aff-20&utm_medium=email&utm_campaign=enews-2016-11-30

Food in Columbia

Representative desserts are buñuelos, natillas, torta Maria Luisa, bocadillo made of guayaba (guava jelly), cocadas (coconut balls), casquitos de guayaba (candied guava peels), torta de natas, obleas, flan de arequipe, roscón, milhoja, and the tres leches cake (a sponge cake soaked in milk, covered in whipped cream, then served with condensed milk). Typical sauces (salsas) are hogao (tomato and onion sauce) and Colombian-style ají.^[6]

Some representative beverages are coffee (Tinto), champús, cholado, lulada, avena colombiana, sugarcane juice, aguapanela, aguardiente, hot chocolate and fresh fruit juices (often made with sugar and water or milk)

---

Chromosome 14

Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 107 million base pairs (the building material of DNA) and represents between 3 and 3.5% of the total DNA in cells.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 14 likely contains between 700 and 1,300 genes.

The centromere of chromosome 14 is positioned approximately at position 19.0-19.1 Mbp.

Genes

The following are some of the genes located on chromosome 14:

• ACIN1: encoding protein Apoptotic chromatin condensation inducer in the nucleus
• ATXN3: Ataxin-3 (Machado-Joseph disease)
• C14orf32/MAPK1IP1L: encoding protein MAPK-interacting and spindle-stabilizing protein-like
• C14orf79: encoding protein Uncharacterized protein C14orf79
• C14orf93: encoding protein C14orf93
• C14orf133: encoding protein Uncharacterized protein C14orf133
• C14orf159: encoding protein UPF0317 protein C14orf159, mitochondrial
• C14orf166: encoding protein UPF0568 protein C14orf166
• C14orf169: encoding protein Chromosome 14 open reading frame 169
• COCH: coagulation factor C homolog, cochlin (Limulus polyphemus)
• DDX24: encoding enzyme ATP-dependent RNA helicase DDX24
• GALC: galactosylceramidase (Krabbe disease)
• GCH1: GTP cyclohydrolase 1 (dopa-responsive dystonia)
• IGH@: immunoglobulin heavy chain locus
• IFT43: intraflagellar transport 43
• MYH7: myosin heavy chain beta (MHC-β) isoform^[2]
• NPC2: Niemann-Pick disease, type C2
• PSEN1: presenilin 1 (Alzheimer disease 3)
• RPL10L: encoding protein 60S ribosomal protein L10-like
• SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
• TSHR: thyroid stimulating hormone receptor
• FAM71D: Family With Sequence Similarity 71, Member D

Diseases and disorders

The following diseases are some of those related to genes on chromosome 14:

• alpha-1 antitrypsin deficiency
• Alzheimer disease
• Burkitt’s lymphoma (t8;14)
• congenital hypothyroidism
• dopamine-responsive dystonia
• Follicular lymphoma (t14;18)
• Hypertrophic cardiomyopathy
• Krabbe disease
• Cranio–lenticulo–sutural dysplasia
• Machado-Joseph disease
• Mosaic monosomy 14
• Multiple myeloma
• Niemann-Pick disease
• Nonsyndromic deafness
• Sensenbrenner syndrome
• Tetrahydrobiopterin deficiency
• Uniparental disomy (UPD) 14